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Appendices
Austria
Number of Staff Involved in Medical Genetic Service Provision
No information is available.
Departments, Centres and Institutions Involved in Genetic Services
Major centres offering a broad range of genetic services Institut für Medizinische Biologie und Humangenetik, Universität Innsbruck — Humangentische Untersuchungs- und Beratungsstelle
Pre- and postnatal cytogenetics, molecular cytogenetics, Molecular genetics, tumour cytogenetics, DNA analysis, biochemical genetics, dysmorphology/genetic syndromology, genetic counselling
Institut für Medizinische Biologie und Humangenetik, Universität Graz — Humangenetische Beratungsstelle
Pre- and postnatal cytogenetics, molecular cytogenetics, tumour cytogenetics, DNA analysis, biochemical genetics, dysmorphology/genetic syndromology, genetic counselling.
Centres offering restricted genetic services
Kinderklinik (Landeskrankenhaus Salzburg), Abteilung Klinische Genetik Postnatal cytogenetics, molecular cytogenetics, dysmorphology/genetic syndromology, genetic counselling
St Anna Kinderspital Wien, Forschungsinstitut für krebskranke Kinder Postnatal cytogenetics, molecular cytogenetics, tumour cytogenetics, DNA analysis
Wilhelminen-Spital Wien, Genetische Beratungsstelle Pre- and postnatal cytogenetics, genetic counselling
Institut für Allgemeine Biologie, Universität Wien Postnatal cytogenetics, molecular cytogenetics, tumour cytogenetics
Centres offering genetic services in special areas/diagnosis/indications
Universitätsklinik für Pädiatrie, Universität Wien, Labor für Angeborene Stoffwechselstörungen
Biochemical genetics, newborn screening, DNA diagnosis of inborn errors of metabolism
Universitätsklinik für Psychiatrie, Allgemeines Krankenhaus Wien Huntington disease
Österreichisches Zentrum für Screening, Zentrallabor, SMZO-Donauspital, Wien
DNA diagnosis
Klin. Abteilung für Neuropathologie und Neurochemie, Allgemeines Krankenhaus Wien
Metachromatic leucodystrophy, adrenoleucodystrophy
Institut für Anatomie, Universität Wien
Duchenne muscular dystrophy, Becker muscular dystrophy
Zentrallaboratorium und Blutbank, Krankenanstalt Rudolfstiftung Wien Haemoglobinopathies, DNA diagnosis
Innere Medizin IV, Abtl. f. Gastroenterologie und Hepatologie, Allgemeines Krankenhaus Wien
Morbus Wilson, haemochromatosis
Klinisches Institut für Medizinische und Chemische Labordiagnostik,
Allgemeines Krankenhaus Wien
DNA diagnosis, coagulation defects
Arbeitsgruppe f. Stoffwechselerkrankungen, Univ. Kinderklinik Graz
Inborn errors of metabolism
Klinisches Institut für Medizinische Chemische Labordiagnostik, Allgemeines
Krankenhaus Wien
DNA diagnosis, complement defects
Stoffwechsellabor, Univ. Kinderklinik Wien
Inborn errors of metabolism
Innere Medizin I, Abteilung für Hämatologie und Hämostaseologie,
Allgemeines Krankenhaus Wien
DNA diagnosis, coagulation defects
Workloads
No information is available.
Patient organisations
No information is available.
Belgium
Departments, Centres, Institutions Involved in Genetic Services
CHU de Liège
Laboratoire de Biochimie Génétique
Pathologie B23
CHY Sart Tilman
B-4020 Liege
Tel. +32 41 30 71 23, Fax +32 41 56 29 74/66 81 46
Medische Genetika
Vrije Universiteit Brussel
Fakulteit Geneeskunde en Farmacie
Laarbeeklaan 103/E
B-1090 Brussels
Tel. +32 2 477 45 89, Fax +32 2 477 58 00
Universitaire Instelling Antwerpen
Medische Genetica
Universiteitsplein 1
B-2610 Wilrijk
Tel. +32 3 820 25 70, Fax +32 3 820 22 48
Centre de Génétique de 1’UCL
Avenue Em Mounier 52, Tour Vesale 5220
B-1200 Bruxelles
Tel. +32 2 764 53 50/764 52 20, Fax +32 2 764 52 22
Centre de Génétique Medicale
Institut de Morphologie Pathologique
Allée des Templiers 41
B-6280 Loveral (Gerpinnes)
Tel. +32 71 43 79 01/47 30 47, Fax +32 71 47 15 20
Facultair Centrum voor Medische Genetica
Academisch Ziekenhuis RUG
Blok A — 1ste verd, De Pintelaan 185
B-9000 Gent
Tel. +32 9 240 36 03, Fax +32 9 240 49 70
Centre de Génétique
Batiment Transfusion (02)
Campus Erasme, 808 Lenniske baan
B-1070 Bruxelles
Tel. +32 2 555 64 30, Fax +32 2 555 64 40
Centruum voor Menselijke Erfelijkheid
K U Leuven, Campus Gasthuisberg
Herestraat 49
B-3000 Leuven
Tel. +32 16 34 58 60/34 59 03, Fax +32 16 34 59 97
Workloads
Centre for Human Genetics UCL
Cliniques Universitaires Saint-Luc, Brussels. Genetic counselling for prenatal and paediatric disorders, classical constitutional cytogenetics, molecular analyses of the most frequent diseases. Childhood leukaemias (with the Department of Paediatrics) — active member of the ‘Groupe Français de Cytogénétique Hématologique’ (GFCH). Special interest in paediatric and adult neuromuscular disorders. Follow-up of prenatal dignosis >85% of pregnancies. Huntington disease (with psychiatric department) — French-speaking association founded. Prevention and genetic screening of familial medullary thyroid carcinoma (MEN2A), breast cancer and polyposis coli. Closely linked to the Academic Hospital in Brussels — masters and PhD study.
The Human Genetics Centre of the Free University of Brussels
Metabolic clinic, department of molecular oncology. Special interest of centre is identifying mutations in thyroid diseases. The primary aim of the centre is prevention, the secondary aim, early diagnosis. Neonatal screening for amino acid disorders (PKU, maple syrup urine disease, histidine, tyrosine and methionine disorders), hypothyroidism and galactosaemia. At-risk population screening for specific disorders (cystic fibrosis, fragile X, haemoglobinopathies, Tay-Sachs) before pregnancy or early pregnancy. Family studies follow carriers, all at risk have received genetic tests. Triple test for Down syndrome is more commonly performed by gynaecologists. Pilot population screening programmes for some specific disorders. The centre is responsible at the national level to the Superior Council for Genetics.
Institute de Pathologie et de Génétique
Only centre in Belgium NOT attached to a university. Large clinical genetics department. It covers a large area of French-speaking western Wallonia i.e 5,200 km2 with 1,100,000 inhabitants and 15,000 births per annum. Services are offered to 23 official hospitals through monthly or occasional clinical genetics consultations. Specialises in congenital malformations from pathological and epidemological perspectives. Clinical evaluation and genetic counselling for mental retardation. Follow-up studies 3 years after initial genetic counselling via questionnaire to assess impact and middle-term effects. This is done by social workers and psychologists. 80,000 biopsy samples analysed annually — special service for cancer-prone families and a concerted molecular cytogenetic analysis of bone marrow and solid tumour specimens.
Human Genetics Centre of Liège
Genetic and biochemical services. Neonatal screening of metabolic diseases; approx. 17,000 newborns surveyed per annum. Same number screened for hypothyroidism and 21-hydroxylase deficiency. Screening programme for creatine Phosphokinase and α1-antitrypsin covers approx 17,000 births. Quality control by the British Biochemical Society Programme. Triple test for Down syndrome using a maternal serum marker uses a specific technique with dried blood for 15,000 tests per year. Pilot programmes for screening pregnant women for cystic fibrosis and fragile X. Pregnant women tested annually in the general population are approximately 23,000/37,000 (estimation). After 4 years, the number of trisomic 21 births has been reduced by 66% in the region of Wallonia.
Human Genetics Centre of Leuven
Nine video programmes about genetic syndromes. One video programme with an introductory survey on genetics has been produced especially for education of the general public. Most institutes for mentally retarded patients in Belgium are visited regularly by physicians from the centre in Leuven and new patients are then selected for chromosomal or molecular investigations of the cause of mental retardation.
Patient Organisations
No information is available.
Bulgaria
Departments, Centres and Institutions Involved in Genetic Services
No information is available.
Workloads
No information is available.
Patient Organisations
No information is available.
Croatia
Departments, Centres and Institutions Involved in Genetic Services
Division of Genetics, Inherited Metabolic Disorders
Department of Paediatrics
University Hospital ‘Rebro’
Tel. +385 1 213087, Fax +385 1 210900
Division of Genetics
Department of Paediatrics
Children’s University Hospital
Zagreb
Tel. +385 1 440455, Fax +385 1 4551308
Laboratory for Molecular Genetics
Department of Clinical Laboratory Diagnostics
University Hospital Centre
Zagreb
Tel. +385 1 212079, Fax +385 1 212079
Division of Neurology and Genetics
Department of Paediatrics
University Hospital Centre
Split
Tel. +385 21 515055, Fax +385 21 365738
Department of Molecular Medicine
Institute ‘Rudjer Boskovic’
Zagreb
Tel. +385 1 4561111, Fax +385 1 424239
Institute for Biology
Medical School University of Rijeka
Rijeka
Tel. +385 51 651111, Fax +385 51 62646
Department of Gynaecology
General Hospital Sv. Duh
Zagreb
Tel. +385 1 171111, Fax +385 1 579248
Institute for Clinical and Experimental Laboratory Oncology University Hospital ‘Sestre milosrdnice’
Zagreb
Tel. +385 1 178666, Fax +385 1 172453
Department of Gynaecology
University Hospital ‘Merkur’
Zagreb
Tel. +385 1 219988, Fax +385 1 212415
Workloads
Number of genetic counselling and cytogenetic analyses per year in Croatia
PUZ | PCUZ | PUS | OSMZ | GMZ | BPR | GSDZ | NZ | Total |
---|---|---|---|---|---|---|---|---|
Counsellings/year | ||||||||
720 | 1,640 | 300 | – | 260 | 40 | 480 | recently | 3,540 |
100 | set up | |||||||
Cytogenetic analyses (prenatal in parentheses) | ||||||||
2,385a | 456a | 400a | 240a | 260 | 400 | 1,200 | – | 5,341 |
(920) | (−) | (−) | (−) | (200b) | (100) | (840) | (2,060) |
Patient Organisations
There are some consumer organisations (mainly for specific diseases including PKU, cystic fibrosis, mucopolysaccharidoses and Duchenne muscular dystrophy) and some have international links (galactosaemia, spinal muscular atrophy and mucopolysaccharidoses).
Cyprus
Departments, Centres and Institutions Involved in Genetic Services
The Cyprus Institute of Neurology and Genetics
PO Box 3462
C-1683 Nicosia
Thalassaemia Centre
Archbishop Makarios Hospital
Acropolis
Nicosia
Centre for the Prevention of Mental Retardation
PO Box 6617
C-3309 Limassol
Workloads
No information is available.
Patient Organisations
No information is available.
Czech Republic
Departments, Centres and Institutions Involved in Genetic Services
Department of Clinical GeneticsA, B, C
Ú stí nad Labem
Tel. +42 47 46751, Fax +42 47 42752
Department of Clinical GeneticsA, B
Àeské Budìjovice
Tel. +42 38 7873007
Department of Clinical GeneticsA, B, C
Brno
Tel. +42 5 45122489
Institute of Medical Genetics and Fetal MedicineA, B, C
Olomouc
Tel. +42 68 5414906
Motol University Hospital, 2nd Medical FacultyA, B, C, D
Prague
Tel. +42 2 24431111
1st Internal Clinic, 1st Medical FacultyD
Prague
Tel. +42 2 24963114
Department of Clinical GeneticsA, B, C
Plzeò
Tel. +42 19 277077
Department of Clinical GeneticsA, B, C
Hradec Králové
Tel. +42 49 23331, Fax +42 49 495832012
Department of Clinical GeneticsA, B, C
Prague
Tel. +42 2 24904111
Department of Clinical GeneticsA, B, C
Prague
Tel. +42 2 4728227, Fax +42 2 4728227
Institute of BiologyC
1st Medical Faculty
Prague
Tel. +42 2 299492
3rd Internal ClinicC,D
1st Medical Faculty
Prague
Tel. +42 2 24962827
Department of Clinical GeneticsA, B
Prague
Tel. +42 2 24802111
Institute of HaematologyC, D
Prague
Tel. +42 2 295265
Institute of Health of ChildC
Brno
Tel. +42 5 7262854
Institute of Haematology Medical FacultyC, D
Olomouc
Tel. +42 68 414102
Institute of Metabolic DiseasesA, C
Prague
Tel. +42 2 295202
Department of Clinical GeneticsA, B
Ostrava-Poruba
Tel. +42 69 6982212
Department of Clinical GeneticsA
Litomyšl
Tel. +42 464 618521
Private Genetic DepartmentA, B
Plzeò
Tel. +42 19 7241529
Private Genetic DepartmentA
Ostrava
Tel. +42 69 233021 Fax +42 69 233021
Private Genetic DepartmentA, B
Hradec Králové
Tel. +42 49 618670
Private Genetic DepartmentA
Ostrava
Tel. +42 69 261754
Private Genetic Department
Sokolov
A = Genetic counselling; B = cytogenetic laboratory; C = molecular laboratory; D = oncocytogenetic laboratory.
Workloads
No information is available.
Patient Organisations
No information is available.
Denmark
Departments, Centres and Institutions Involved in Genetic Services
Department of Medical Genetics,
Panum Institute, University of Copenhagen
Blegdamsvej 3
DK-2200 København Ø
Tel. +45 35327816, Fax +45 31393373
John F. Kennedy Institute
Gl Landevej 7
DK-2600 Glostrup
Tel. +45 4326 0100, Fax +45 4343 1130
Department of Clinical Biochemistry and Genetics
Odense University Hospital
DK-5000 Odense C
Tel. +45 6611 1725, Fax +45 6541 1911
Department of Clinial Genetics
County Hospital of Vejle
DK-7100 Vejle
Tel. +45 7572 7233, Fax +45 7584 1336
Clinical Genetics Department
Arhus University Hospital
Bartholin Bygningen
Universitetsparken
DK-8000 Arhus C
Tel. +45 89494362, Fax +45 89494370
Department of Clinical Genetics
Juliane Marie Centre
Rigshospitalet, Blegdamsvej
DK-2100 København Ø
Tel. +45 3545 4062, Fax +45 3545 4072
Workloads
Diagnostic samples analysed in 1994
Dept. Medical Genetics University of Copenhagen | Dept. Clinical Genetics Rigshospitalet Copenhagen | John F. Kennedy Institute Glostrup | Dept. Clinical Genetics Vejle | Dept. Clinical Genetics Arhus | Section Clinical Genetics Odense | Total | |
---|---|---|---|---|---|---|---|
Cytogenetics | |||||||
Blood (including FISH) | 112 | 782 | 1,132 | 327 | 667 | 3,020 | |
Amnio/CVS | 2,587/2,073 | 412/567 | 724/24 | 1,551/716 | 5,274/3,380 | ||
Molecular genetic analyses | 92 | ||||||
Prenatal | 74 | 30 | 25 | 30 | 129 | ||
Postnatal | 1,056 | 630a | 130 | 1,938 | |||
Biochemical (inborn errors) | 2 | ||||||
Prenatal | 10 | 32a | 42 | ||||
Postnatal | 2,604b | 3,526c | 6,130 | ||||
Number of genetic counsellings (patient consultations) | 300 | 250 | 400 | 200e | 160 | 1,810 | |
Low riskd | 3,119 | ||||||
High risk | 500 |
Patient Organisations
No information is available.
Finland
Departments, Centres and Institutions Involved in Genetic Services
Department of Medical Genetics
University of Helsinki
PO Box 21 (Haartmaninkatu 3)
FIN-00014 Helsinki
Tel. +358 9 43461, Fax +358 9 434 6677
Department of Medical Genetics
University of Turku
Kiinamyllynkatu 10
FIN-02520 Turku
Tel. +358 2 33371, Fax +358 2 3337300
Department of Human Molecular Genetics
National Public Health Institute
Mannerheimintie 166
FIN-00300 Helsinki
Tel. +358 9 47441, Fax +358 9 474408
National Research and Development for Welfare and Health
National Public Health Institute
PO Box 220
FIN-00531 Helsinki
Tel. +358 9 3967 2376, Fax +358 9 3967 2324
Helsinki University Central Hospital
Department of Clinical Genetics
Haartmaninkatu 2
FIN-00290 Helsinki
Tel. +358 0 4711, Fax +358 0 471 6089
Helsinki University Central Hospital
Department of Obstetrics and Gynaecology
Prenatal Genetics
Haartmaninkatu 2
FIN-00290 Helsinki
Tel. +358 9 4711, Fax +358 9 471 4906
Helsinki University Central Hospital
Laboratory of Molecular Genetics
Haartmaninkatu 4
FIN-00290 Helsinki
Tel. +358 0 4711, Fax +358 0 471 4001
Department of Clinical Genetics
Oulu University Hospital
Kajaanintie 52
FIN-90220 Oulu
Tel. +358 8 315 2011, Fax +358 8 315 4499
Department of Clinical Genetics
Tampere University Hospital
PO Box 2000
FIN-33521 Tampere
Tel. +358 3 2475305, Fax +358 3 2474361
Department of Clinical Genetics
Kuopio University Hospital
PL 2000
FIN-70200 Kuopio
Tel. +358 17 172147, Fax +358 17 172726
Vaestoliitto, The Family Federation of Finland
Department of Medical Genetics
Kalevankatu 16
FIN-00100 Helsinki
Tel. +358 9 616 22246, Fax +358 9 645 018
The Finnish Red Cross
Blood Transfusion Service
Kivihaantie 7
FIN-00310 Helsinki
Tel. +358 0 580 1256, Fax +358 0 580 1397
Folkhälsan Department of Medical Genetics
Topeliusgatan 20
FIN-00250 Helsingfors
Tel. +358 9 43 491, Fax +358 9 4349 352
Private laboratories
Medix Ltd
Nihtisillankuja 1
FIN-02630 Espoo
Tel. 358 0 525 6222, Fax 358 0 525 6211
United Laboratories Ltd.
Hoylaamotie 14
FIN-00380 Helsinki
Tel. +358 0 50603470, Fax +358 0 50605410
The Rinnekoti Institution for the Mentally Retarded
FIN-02980 Espoo
Tel. +358 0 8551289, Fax +358 0 8551274
Workloads
See table 2 in Dimension 1 (main text)
Patient Organisations
See main text.
France
Departments, Centres and Institutions Involved in Genetic Services
Information is available on Internet
(https://doi.org/www.infobiogen.fr/services/orphanet).
Workloads
No information is available
Patient Organisations
A list is available on Internet (https://doi.org/www.infobiogen.fr/services/orphanet).
Guidelines and Laws
Génétique et Médecine: de la prédiction à la prévention. Les cahiers du Comité Consultatifs National d’Ethique pour les sciences de la vie et de la santé, No. 6, 1996.
Lois No. 94–653 and No. 94–654, July 29, 1994.
Décrets No. 95–558 and 95–5569, May 6, 1995.
Germany
Number of Staff Involved in Medical Genetic Service Provision
As of December 1996, 441 geneticists were members of the Board of Medical Genetics.
Departments, Centres and Institutions Involved in Genetic Services
Genetic counselling services [Med Genet 1995;3:389–391] | |
Private solo practice in genetic counselling | |
Obstetrician | 13 |
Paediatrician | 11 |
GP | 1 |
Specialist (human genetics) | 14 |
Others | 7 |
Private group practices Centres in university human genetics departments | 35 |
Centres at community/friendly society hospital | 15 |
Centres at public health facility | 2 |
Cytogenetic Laboratories [P. Miny, Institut fur Humangenetik, Münster, 1995] | |
University based | 25 |
Community/friendly society hospital | 4 |
Privately owned | 26 |
Total | 55 |
Molecular genetic laboratories [Med Genetik 1995;7S:45–46] | |
University based | 61 |
Community/friendly society hospital | 2 |
Privately owned | 10 |
Total | 73 |
Workloads
[Source: Nippert I, Nippert RP, Horst J, Schmidtke J: Die medizinische-genetische Versorgung in Deutschland. Med Genetik 1997;2:188–205]. In 1995: number of amniocenteses/CVS in former FRG states and East Berlin paid by sickness funds = 61,794; chromosomal diagnostics from blood samples paid by sickness funds in former FRG states and East Berlin = 27,601, and genetic counselling paid by sickness funds in former FRG states and East Berlin = 32,777.
Persons diagnosed by DNA probes in 1994: 13,436 [Berufsverband Medizinische Genetik, 1995].
Patient Organisations
More than 80 exist.
Greece
Number of Staff Involved in Medical Genetic Service Provision
No information is available.
Departments, Centres and Institutions Involved in Genetic Services
Aghia Sofia Children’s Hospital
GR-11527 Athens
Tel. +301 7771811
Cytogenetics, genetic counselling, molecular genetics, prenatal diagnosis
Alexandra Hospital
80 Vas. Sofias Ave
GR-11528 Athens
Tel. +301 8951478
Clinical genetics, genetic counselling
Alfalab (private)
8 Anastasiou St
GR-11524 Psychiko
Tel. +301 6929420
Molecular genetics, cytogenetics
Asklepieion Hospital
1 Vas Pavlou St
GR-16673 Voula
Tel. +301 8951478
Clinical genetics, genetic counselling
Eginition Hospital
72 Vas. Sofias Ave
GR-11528 Athens
Tel. +301 7244917
Neurological genetics
Evangelismos Hospital
47 Ypsilantou St
GR-11521 Athens
Tel. +301 7220001, x2289
Cytogenetics, genetic counselling, oncogenetics
Genetic Diagnostic Center (private)
86 Vas. Sofias Ave
GR-11528 Athens
Tel. +301 7705010
Genetic counselling, metabolic diseases, clinical genetics, cytogenetics
Institute of Child Health
GR-11527 Athens
Tel. +301 7709241, 7753030
Laikon Hospital
(1st Department of Medicine, University of Athens)
GR-11527 Athens
Molecular genetics, haemoglobinopathies
School of Dentistry, University of Athens
Genetics and Stomatology Clinic
GR-11527 Athens
Tel. +301 7701341
Orofacial genetics
P. & A. Kyriakou Children’s Hospital
(a) Department of Paediatrics, Faculty of Nursing
GR-11527 Athens
Tel. +301 7709316
Clinical genetics, genetic counselling
P. & A. Kyriakou Children’s Hospital
(b) Second Department of Paediatrics
University of Athens
Tel. +30 1 7791935
Clinical genetics, cytogenetics, counselling
University Hospital of Ioannina
GR-450001 Ioannina
Tel. +30 651 33653
Cytogenetics
University of Patra
GR-26443 Rio
Tel. +30 61 997621
Cytogenetics
AHEPA Hospital
GR-54100 Thessaloniki
Tel. +30 1 933513
Cytogenetics, clinical genetics, genetic counselling
Hippokrateion Hospital
GR-54100 Thessaloniki
Tel. +30 1 837921
Clinical genetics, cytogenetics, genetic counselling
Workloads
No information is available.
Patient Organisations
No information is available.
Hungary
Departments, Centres, Institutions Involved in Genetic Services
See below.
Workloads
Genetic counselling clinics in Hungary
Number of staff | Days/week | Total hours/week | Cytogenetic laboratory | New couples/all visits | ||||||
---|---|---|---|---|---|---|---|---|---|---|
MD | others | 1990 | 1991 | 1992 | 1993 | 1994 | ||||
Budapest: Haynal Imre Medical University, Department of Obstetrics and Gynaecology, H-1135 Szabolcs u. 35, Tel./Fax +36 1 270 22 12 | 2 | 1 | 2 | 6 | yes | /622 | /1,375 | /1,049 | /943 | /1,157 |
Budapest: Department of Human Genetics and Teratology, NIH, WHO Collaborating Centre, H-1148 Bolgárkerék u. 3, Tel./Fax +36 1 163 52 72/163 22 29 | 3 | 2 | 5 | 20 | yes | 2,402/4,180 | 2,380/4,174 | 2,804/5,265 | 2,241/4,284 | 2,345/5,003 |
Budapest: Schöpf-Merei Ágost Hospital and Maternity Care Centre, H-1092 Knézich u. 14, Tel. +36 1 215 10 55 | 1 | 3 | 2 | 6 | yes | 54/136 | 446/1,114 | 922/2,305 | 1,012/2,530 | 912/2,279 |
Budapest: Schöpf-Merei Ágost Hospital and Maternity Care Centre, H-1092 Knézich u. 14, Tel. +36 1 215 10 55, 1 217 16 33/157 | 1 | 1 | 2 | 4 | yes | 150/321 | 152/337 | 133/288 | 182/401 | 179/411 |
Budapest: Semmelweis University of Medicine, Department of Paediatrics II, H-1094 Tûzoltó u. 7–9, Tel. +36 1 215 13 80, Fax +36 1 217 57 70 E-Mail fekgyö@gyer2.sote.hu | 3 | 0 | 3 | 14 | yes | /444 | /493 | /384 | /419 | /366 |
Budapest: I. Department of Obstetrics and Gynaecology, Semmelweis University Medical School, H-1088 Baross u. 27, Tel. +36 1 210 03 15, Fax +361 114 02 31 | 2 | 2 | 3 | 27 | yes | 219/402 | 1,321/3,240 | 1,872/4,760 | 2,020/4,705 | 2,310/6,221 |
Debrecen: University Medical School, Department of Obstetrics and Gynaecology, H-4012 Nagyerdei krt. 98, Tel. +36 52 417 144, Fax +36 52 417 577 | 2 | 1 | 4 | 20 | yes | 1,784/3,529 | 1,293/4,199 | 1,460/4,333 | 1,666/4,652 | 1,439/4,440 |
Eger: Markhot Ferenc County Hospital, Genetic Counselling, H-3301 Pf. 15, Fax +36 36 410 816 | 3 | 2 | 1 | 4 | yes | 80/80 | 373/549 | 403/849 | 262/594 | 326/694 |
Gyõr: Petz Aladár County Hospital Clinical-Genetics Centre, H-9002 Magyar u. 8, Tel. +36 96 418 244 | 4 | 0 | 2 | 5 | yes | 396/617 | 394/461 | 580/829 | 458/510 | 480/518 |
Miskolc: County Hospital of Borsod-Abaúj-Zemplén County, Department of Obstetrics and Gynaecology, H-3501 Szentpéteri kapu 72–76, Tel. +36 46 321 211, Fax +36 46 323 694 | 1 | 1 | 1 | 6 | yes | – | – | 770/1,052 | 686/883 | 718/980 |
Pécs: University of Medicine, Department of Paediatrics, Division of Genetics, H-7623 József A. u. 4, Tel. +36 72 310 144, Fax +36 72 314 937 | 3 | 2 | 3 | 6 | yes | 195 | 174 | 204 | 180 | 253 |
Pécs: University Medical School, Department of Obstetrics and Gynaecology, H-7624 Ádesanyák u. 17, Tel. +36 72 324 122 | 1 | 0 | 2 | 2 | yes | 170/235 | 192/246 | 240/276 | 260/315 | 310/350 |
Szeged: Szent-Györgyi University of Medicine, Institute of Medical Genetics, H-6720 Híd u. 6, Tel. +36 62 312 629 | 1 | 2 | 3 | 9 | yes | 1,695 | 1,711 | 1,652 | 1,729 | 1,645 |
Szolnok: County Centre for Genetic Counselling, H-5004 Tószegi u. 21, Tel. +36 56 421 521/259 | 2 | 1 | 2 | 4 | no | – | 85/90 | 125/137 | 109/115 | 125/130 |
Szombathely: Markusovszky Hospital, Department of Paediatrics, H-9007 Markusovszky u. 3, Tel. +36 94 311 542, Fax +36 94 327 873 | 1 | 1 | 1 | 3 | yes | 290 | 329 | 329 | 319 | 265 |
Zalaegerszeg: County Hospital, H-8901 P.O. Box 24, Tel. +36 94 311 410 (ext. 1580) | 1 | 4 | 2 | 5 | yes | 345 | 294 | 264 | 267 | 375 |
Cytogenetic laboratories in Hungary
Number of staff | Specific profile | Number of chromosomal exams/pathological karyotypes | ||||||
---|---|---|---|---|---|---|---|---|
graduated | assistants | 1990 | 1991 | 1992 | 1993 | 1994 | ||
Budapest, Haynal Imre Medical University, Department of Obstetrics and Gynaecology, H-1135 Szabolcs u. 35, Tel./Fax +36 361 270 22 12 | 2 | 4 | PLC | 122/17 | 98/16 | 103/6 | 55/8 | 125/15 |
Budapest. Department of Human Genetics and Teratology, NIH, WHO Collaborating Centre, H-1148 Bolgárkerék u. 3, Tel./Fax +36 1 163 52 72/1 163 22 29 | 1 | 3 | PLC | 219/24 | 296/28 | 332/29 | 290/17 | 288/17 |
Budapest: National Institute of Haematology, Blood Transfusion and Immunology, H-1113 Daróci u. 24, Tel. +36 166 58 22, Fax +36 166 60 04 | 2 | 3 | PLC bone marrow (haematological malignancies) | 502/103 | 514/119 | 499/142 | 387/107 | 607/180 |
Budapest: Schöpf-Merei Ágost Hospital and Maternity Care Center, H-1092 Knézich u. 14, Tel. +36 1 215 10 55 | 2 | 5 | PLC | – | 150/8 | 142/9 | 132/6 | 115/8 |
Budapest: Semmelweis University of Medicine, | 3 | 2 | PLC | 337/71 | 396/110 | 302/57 | 310/77 | 274/56 |
Department of Paediatrics II, H-1094 Tûzoltó u. 7–9, Tel. +36 1 215 13 80, Fax +36 1 217 57 70, E-Mail fekgyö@gyer2.sote.hu | bone marrow | 77/20 | 56/15 | 86/9 | 94/13 | 112/25 | ||
Budapest: Semmelweis University of Medicine, | 1 | 3 | PLC (paternity) | 10/3 | 7/4 | 14/7 | 9/3 | 14/5 |
Department of Forensic Medicine, H-1091 Üllõi út 93, Tel. +36 1 215 73 00 | (198) | (156) | (211) | (162) | (193) | |||
Budapest: I. Department of Obstetrics and Gynaecology, Semmelweis University Medical School, H-1088 Baross u. 27, Tel. +36 1 210 03 15, Fax +361 114 02 31 | 3 | 2 | PLC | 26/4 | 121/102 | 163/37 | 142/86 | 176/92 |
Debrecen: University of Medicine, Department of Paediatrics, | 1 | 3 | PLC | 131/31 | 137/33 | 134/26 | 138/28 | 129/25 |
H-4032 Péchy u. 28, Tel. +36 52 411 600 | bone marrow | 155/28 | 173/29 | 136/27 | 224/42 | 186/61 | ||
Debrecen: University Medical School, Department of Obstetrics and Gynaecology I, H-4012 Pf. 37, Tel. +36 52 417 144/4044, Fax +36 52 414 577 | 2 | 2 | PLC | 27/2 | 72/4 | 57/6 | 46/4 | 40/5 |
Eger: Markhot Ferenc County Hospital, Genetic Laboratory, H-3301 Pf. 15 | 2 | 1 | PLC (including bone marrow) | 156/11 | 200/27 | 218/20 | 126/13 | 186/21 |
Gyõr: Petz Aladár County Hospital Clinical-Genetics Centre, | 1 | 4 | PLC | 120/29 | 119/22 | 115/24 | 90/14 | 126/20 |
H-9002 Magyar u. 8, Tel. +36 96 418 244 | bone marrow | 6/6 | 14/8 | 16/3 | 17/7 | 13/6 | ||
Miskolc: County Hospital of Borsod-Abaúj-Zemplén County, Department of Obstetrics and Gynaecology, H-3501 Szentpéteri kapu 72–76, Tel. +36 46 321 211, Fax +36 46 323 694 | 1 | 1 | PLC | – | – | 25/8 | 91/14 | 133/19 |
Pécs: University Medical School, Department of Paediatrics, Division of Genetics, H-7623 József A. u. 4, Tel. +36 72 310 144, Fax +36 72 314 937 | 3 | 2 | PLC and bone marrow | 154/40 | 147/23 | 163/24 | 152/20 | 158/31 |
Szeged: Szent Györgyi University of Medicine, Institute of Medical Genetics, H-6720 Somogyi B. út 4, Tel. +36 62 455 133, Fax +36 62 312 529 | 4 | 5 | PLC | 242/63 | 264/28 | 277/38 | 266/28 | 274/39 |
Szombathely: Markusovszky Hospital, | 0 | 3 | PLC | 47/7 | 55/14 | 61/10 | 56/25 | 55/12 |
H-9701 Deák F. u. 2, Tel. +36 94 311 490 | bone marrow | 21/15 | 20/12 | 16/9 | 33/14 | 35/25 | ||
Zalaegerszeg: County Hospital, H-8901 P.O. Box 24, Tel. +36 94 311 410 (ext. 1580) | 1 | 4 | PLC | 106/21 | 107/10 | 112/15 | 73/9 | 110/9 |
PLC = Peripheral lymphocyte culture. |
Fetal diagnostic centres (and number of cytogenetic exams) in Hungary
Number of staff | Number of cytogenetic exams/pathological karyotypes | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
MD | others | 1990 | 1991 | 1992 | 1993 | 1994 | ||||||
CVS | AC | CVS | AC | CVS | AC | CVS | AC | CVS | AC | |||
Budapest: Haynal Imre Medical University, Department of Obstetrics and Gynaecology, Prenatal Diagnostic Centre, H-1135 Szabolcs u. 35, Tel./Fax +36 1 270 22 12 | 2 | 4 | 393/19 | 32/4 | 357/13 | 44/3 | 307/12 | 14/2 | 301/20 | 32/3 | 258/8 | 30/4 |
Budapest: Schöpf Merei Ágost Hospital and Mother Protecting Centre I, H-1092 Knézich u. 14, Tel. +36 1 215 10 55 | 2 | 5 | 17/1 | 205/19 | 408/22 | 502/28 | 16/5 | 525/21 | 39/5 | |||
Budapest: I. Department of Obstetrics and Gynaecology, Semmelweis University Medical School, H-1088 Baross u. 27, Tel. +36 1 210 03 15 | 3 | 2 | 15/1 | 38/1 | 47/2 | 572/9 | 38/4 | 726/11 | 57/3 | 972/17 | 64/5 | 1,121/22 |
Debrecen: University Medical School, Department of Obstetrics and Gynaecology, H-4032 Nagyerdei krt. 98, Tel. +36 52 417 144, Fax +36 52 417 577 | 1 | 2 | – | 72/3 | 32/2 | 55/1 | 233/17 | 38/6 | 317/8 | 35/6 | 335/15 | |
Gyõr, Petz Aladár County Hospital, Clinical Genetics Centre, H-9002 Magyar u. 8, Tel. +36 96 418 244 | 5 | 2 | 76/5 | 103/4 | 128/7 | 141/10 | 139/5 | |||||
Pécs: University Medical School, Obstetrics and Gynaecology, H-7624 Ádesanyák u. 17, Tel. +36 72 324 122; Department of Paediatrics, Division of Genetics, H-7623 József A. u. 4, Tel. +36 72 310 144, Fax +36 72 314 937 | 0 | 1 | 76 | 92 | 102 | 100 | 114 | |||||
Szeged: Szent Györgyi University of Medicine, Institute of Medical Genetics, H-6720 Somogyi B. út 4, Tel. +36 62 455 133, Fax +36 62 312 529 | 4 | 5 | 194/12 | 201/14 | 228/12 | 346/15 | 284/14 | |||||
Szombathely: Markusovszky Hospital, H-9007 Markusovszky u. 3, Tel. +36 94 311 542, Fax +36 94 327 873 | 0 | 3 | 20 | 64 | 51 | 42 | 38 | |||||
Zalaegerszeg: County Hospital, H-8901, P.O. Box 24, Tel. +36 94 311 410 (ext. 1580) | 1 | 4 | 166 | 121 | 130 | 116 | 111 |
Molecular and/or biochemical genetic laboratories in Hungary
Number of staff | Diseases studied | Number of exams and pathological outcomes | ||||||
---|---|---|---|---|---|---|---|---|
MD | others | 1990 | 1991 | 1992 | 1993 | 1994 | ||
Budapest: Buda Children’s Hospital, | 1 | 3 | total | 62,040 | 63,120 | 61,000 | 59,663 | 57,120 |
Screening Centre of Congenital Metabolic Disorders, | PKU | 3 | 8 | 8 | 10 | 6 | ||
PKU Laboratory, H-1277 P.O. Box 14, | galactosaemia | 1 | 1 | 0 | 3 | 1 | ||
Tel. +36 1 212 41 47, Fax +36 1 212 52 52 | biotinidase deficiency | 2 | 2 | 4 | 1 | 5 | ||
hypothyroidism | 24 | 15 | 13 | 23 | 27 | |||
Budapest: Department of Biochemistry, HIH, | 1 | 2 | spinal muscular atrophy, | 0 | 3/0 | 4/0 | 12/3 | 6/1 |
H-1097 Gyáli út 2–6., Tel. +36 1 215 22 50, | infantile (Werdnig-Hoffmann) | |||||||
Fax +36 1 215 01 48, E-Mail HI889 VIN@ELLA HU | ||||||||
Budapest: Semmelweis University of Medicine, | 1 | 2 | MCAD deficiency | – | – | – | – | 1,400/5 |
Department of Internal Medicine III, | familial hypercholesterolaemia | 2/1 | ||||||
H-1121 Eötvös út 12, Tel. +36 175 45 33 | familial defective apoB | 230/3 | ||||||
ApoE polymorphism | 250 | |||||||
ACE I/D polymorphism | 20 | |||||||
ApoA IV 1/2 polymorphism | 30 | |||||||
Budapest: National Institute of Oncology, | 2 | 4 | familial breast and ovarian | – | – | – | – | 6/4 |
H-1525 Ráth Gy. u. 7–9, Tel. +36 1 155 01 25, | cancer (BRCA1, BRCA2) | |||||||
Fax +36 1 156 24 02 | ||||||||
Budapest: National Institute of Haematology, | ||||||||
Blood Transfusion and Immunology, | ||||||||
H-1113 Daróczi út 24, Tel. +36 1 166 58 22, Fax +36 1 166 60 04 | ||||||||
Thalassaemia | 2 | 4 | thalassaemia | 50/15 | 42/17 | 38/12 | 21/9 | 0/0 |
Haemophilia | 2 | 4 | haemophilia | – | – | – | – | 15 |
Immunogenetics | 3 | 6 | HLA (transplantation) | 170 | 140 | 255 | 351 | 462 |
Molecular genetics | 1 | 1 | microsatellite | |||||
(leukaemia-lymphoma) | 60/28 | 143/57 | 270/88 | 436/150 | 464/148 | |||
Budapest: Semmelweis University of Medicine, | 2 | 1 | cystic fibrosis | 81/8 | 113/66 | 366/122 | 368/73 | 506/189 |
Department of Paediatrics II., H-1094 Tûzoltó u. 7–9, | antenatal | – | – | 9/2 | 11/2 | 11/4 | ||
Tel. +36 1 215 13 80, Fax +36 1 217 57 70, | microsatellite | – | – | – | – | 7/4 | ||
fekgyö@gyer2.sote.hu | congenital adrenal hyperplasia | – | – | – | – | 7/6 | ||
Wilms tumour/aniridia | – | – | – | – | 93 | |||
Budapest: I. Department of Obstetrics and Gynaecology, | 4 | 4 | cystic fibrosis, haemophilia, colon | 3/0 | 6/1 | 11/2 | 10/3 | 12/2 |
Semmelweis University Medical School, H-1088 Baross u. 27, | polyposis, Werdnig-Hoffmann, | |||||||
Tel. +36 1 210 03 15, Fax +36 1 114 02 31 | adult polycystic kidney, | |||||||
Huntington disease | ||||||||
Debrecen: University Medical School, Department of Obstetrics and Gynaecology, H-4012 Nagyerdei krt. 98, Tel.+36 52 417 144, Fax +36 52 417 577 | 10 | 4 | Duchenne | – | – | – | 2 | 2 |
Debrecen: University Medical School, Department of Clinical Chemistry, H-4012, Tel./Fax +36 52 417 631 | 1 | 1 | deletion screening, Duchenne, Becker, Limb-girdle muscular dystrophy, muscular dystrophy of unknown origin | – | – | 36/15 | 28/9 | 24/8 |
Debrecen: University Medical School, Department of Neurology, H-4012, Tel./Fax +36 52 415 176 | 1 | 1 | dystrophin | – | – | – | 22/10 | 28/12 |
Pécs: University Medical School, Department of Paediatrics, Division of Genetics, H-7623 József A. u. 4, Tel. +36 72 310 144, Fax +36 72 314 937 | 3 | 4 | cystic fibrosis, myopathies, haemophilia, lysosomal and mitochondrial amino acids, organic acid diseases | 41/5 | 30/3 | 46/13 | 210/22 | 270/34 |
Ireland
Departments, Centres and Institutions Involved in Genetic Services
No information is available.
Workloads
Tests offered by the molecular genetics laboratory, National Centre for Medical Genetics, November, 1996
Disorder | Tests offered | Basis of test(s) |
---|---|---|
Duchenne/Becker muscular dystrophy | diagnostic deletion screen, carrier detection and | multiplex PCR for deletions; linked markers; |
prenatal diagnosis | PTT for mutations | |
Cystic fibrosis | diagnostic mutation screen, carrier detection and | direct mutation detection for the 11 most common |
prenatal diagnosis | Irish mutations | |
Fragile X syndrome | diagnosis, carrier detection and prenatal diagnosis | expansions by Southern blot and direct sizing of (CCG)n repeat by PCR |
Prader Willi syndrome | diagnosis | Southern blot for both deletions and disomy; |
microsatellite markers to distinguish the two | ||
Angelman syndrome | diagnosis | Southern blot for both deletions and disomy; |
microsatellite markers to distinguish the two | ||
Huntington disease | diagnostic testing | direct sizing of (CAG)n repeat by PCR |
Myotonic dystrophy | diagnosis, predictive testing, prenatal diagnosis | expansions by Southern blot and direct sizing of (CTG)n repeat by PCR |
Familial adenomatous polyposis coli | predictive testing | direct mutation detection, linked and intragenic |
markers | ||
Hereditary non-polyposis colon cancers | diagnosis and predictive testing | direct mutation detection, linked and intragenic |
markers | ||
Multiple endocrine neoplasia and associated RET | diagnosis, predictive testing | direct mutation detection |
disorders | ||
Spinal muscular atrophies | diagnosis | deletion detection, linked markers |
Silver-Russell syndrome and primordial growth | uniparental disomy testing | microsatellite analysis of parents and child |
retardation |
Patient Organisations
Inherited Diseases Organisation
(Hon. Sec. Mrs. Julia M. Windle)
Carmichael House
North Brunswick Street
Dublin 7
Tel. +353 1 872 1501, Fax +353 1 872 4482
Israel
Departments, Centres and Institutions Involved in Genetic Services
Hadassah Medical Centre Jerusalem
Department of Human Genetics
Cytogenetics, biochemical and molecular genetics
Gideon Bach, PhD
Tel. +972 2 6776931, Fax +972 2 6777499
E-Mail bach@cc.huij.ac.il
Beilinson Hospital, Rabin Medical Centre, Petach Tiqva
Institute of Medical Genetics
Cytogenetics, biochemical genetics and molecular genetics
Mordechai Shohat, MD
Tel. +972 3 9377658, Fax +972 3 9377660
Bnai Zion Medical Centre, Haifa
Simon Winter Institute for Human Genetics
Cytogenetics, biochemical and molecular genetics
Zvi Borochowitz, MD
Tel. +972 4 359459, Fax +972 4 371393
Ichilov Hospital, Tel Aviv
Genetic Institute
Cytogenetics, biochemical and molecular genetics
C. Legum, MD
Tel. +972 3 6974703, Fax +972 3 6974555
Haemek Hospital, Afula
Genetic Unit
Cytogenetics
H. Cohen, PhD
Tel. + 972 6 524345, Fax + 972 6 522642
Herzlia Medical Centre, Herzlia
Genetic Unit
Cytogenetics
Rambam Medical Centre, Haifa
Genetic Unit
Cytogenetics, biochemical and molecular genetics
R. Gershoni-Baruch, MD
Tel. +972 4 542456, Fax +972 4 515710
Kaplan Hospital, Rehovot
Clinical Genetic Unit
Cytogenetics, biochemical and molecular genetics
Z. Gleman-Kohan, MD
Tel. +972 8 944 1384, Fax +972 8 941 0991
Meir Hospital, Kfar Sava
Genetic Unit
Cytogenetics and biochemical genetics
O. Reish, MD
Tel. +972 9 900 253
Asaf Harofe, Tsrifin
Genetics Unit
Cytogenetics, biochemical genetics
K. Fried, MD, PhD
Tel. +972 8 977 9745
Sheba Medical Centre, Tel Hashomer
Department of Human Genetics
Cytogenetics, biochemical and molecular genetics
B. Goldman, MD
Tel. +972 3 5302826, Fax +972 3 5302914
Soroka Medical Centre, Beer Sheva
Genetic Institute
Cytogenetics, biochemical and molecular genetics
R. Carmi, MD
Tel. +972 7 400907, Fax +972 7 280955
Wolfson Medical Centre, Holon
Genetic institute
Cytogenetics
Workloads
No information is available.
Patient Organisations
No information is available.
Italy
Numbers of Staff Involved in Medical Genetic Service Provision
No information is available
Departments, Centres and Institutions Involved in Genetic Services
From 1996 census (held by the Italian Genetic Scientific Societies): 250 genetic counselling centres, 62 molecular diagnostic laboratories and 116 cytogenetic laboratories.
Workloads
No information is available.
Patient organisations
More than 200 patient/family organisations are active. See the Internet https://doi.org/www.genet.it.
Latvia
Departments, Centres and Institutions Involved in Genetic Services
State Medical Genetics Centre
State Children Clinical Hospital ‘Gailezers’
20 Juglas str
LV-1038 Riga
Tel. +371 2 536840, 536672
Department of Medical Biology and Genetics
Medical Academy of Latvia
16 Dzirciema str
LV-1007 Riga
Fax +371 7 828155
A. Kirhenstein Institute of Microbiology and Virology
1 Kirhemsteina str
LV-1067 Riga
Tel. +371 2 428038, Fax +371 2 428036
University of Latvia
Biomedical Research and Study Centre
1 Kirhensteina str
LV-1067, Riga
Fax +371 2 427521
Association of Latvian Medical Geneticists
Department of Medical Biology and Genetics
Medical Academy of Latvia
Dzirciema str. 16
LV-1007 Riga
Fax +371 7 828155
Workloads
No information is available.
Patient Organisations
National Society for PKU
Latvian State Medical Genetics Centre
Juglas 20
LV-1038 Riga
Tel. +371 2 53 68 40, Fax +371 2 53 66 72
National Society for Downs Syndrome
Putnu 2 apt. 79
LV 2016 Jurmala
National Society for CF
Prusu 3/2, apt. 42
LV-1065 Riga
Tel. 251 710
Lithuania
Departments, Centres and Institutions Involved in Genetic Services
Structure of the Human Genetics Centre
-
1.1 Genetic Counselling Clinic
-
1.2 Mass Neonatal Screening Unit
-
1.3 Lithuanian Registry of Inherited Diseases and Congenital Anomalies (LIRECA)
-
1.4 Laboratory Unit
-
1.4.1 Laboratory of Biochemistry
-
1.4.2 Laboratory of Molecular Genetics
-
1.4.3 Laboratory of Cytogenetics
-
-
1.5 Computer Unit
Workloads
No information is available.
Patient Organisations
No information is available.
The Netherlands
Departments, Centres and Institutions Involved in Genetic Services
Department of Clinical Genetics
Academic Hospital Vrije Universiteit
Postbus 7057
1007 MB Amsterdam
Tel. +31 20 444 0150, Fax +31 20 444 0769
Department of Clinical Genetics
Academic Medical Centre
Meibergdreef 15
1105 AZ Amsterdam
Tel. +31 20 566 5111, Fax +31 20 601 8626
Department of Medical Genetics
University of Groningen
A. Deusinglaan 4
9713 AW Groningen
Tel. +31 50 363 2925, Fax +31 50 363 2947
Department of Clinical Genetics
Academic Hospital Leiden
Postbus 9600
2300 RC Leiden
Tel. +31 71 526 8033, Fax +31 71 524 8109
Department of Clinical Genetics
Postbus 1475
6201 BL Maastricht
Tel. +31 43 387 5855, Fax +31 43 3877 7877 Department of Clinical Genetics
St. Radboud Hospital
Postbus 9109
6500 HB Nijmegen
Tel. +31 24 361 3947, Fax +31 24 356 5026
Department of Clinical Genetics
Erasmus University
Westzeedijik 112
3016 AH Rotterdam
Tel. +31 10 463 6918, Fax +31 10 436 0146
Centre for Clinical Genetics
Postbus 18009
3501 CA Utrecht
Tel. +31 30 232 0310, Fax +31 30 232 0282
Workloads
No information is available.
Patient Organisations
V.S.O.P.
Vredehotstraat 31
3761 HA Soestdyk
Tel. +31 35 602 8155, Fax +31 35 602 7440
Norway
Numbers of Staff Involved in Medical Genetics Service Provision in the Author’s Centre
Department of Medical Genetics, Regional Hospital, Tromsø
Population served | Genetically trained physicians | Genetic physicians in training | Cytogenetically or molecularly trained technicians | Trained molecular geneticists | Genetic nurses |
---|---|---|---|---|---|
475,000 | 1 | 2 | 9 | 3 | 1 |
Departments, Centres and Institutions Involved in Genetic Services
Institute of Medical Genetics
University of Oslo
with Department of Medical Genetics, Ullevål Hospital
PO Box 1036, Blindem
N-0315 Oslo
Tel. +47 22 11 98 60, Fax +47 22 11 98 99
Institute of Medical Genetics
University of Bergen
with Department of Medical Genetics, Haukeland Hospital
N-5021 Bergen
Tel. +47 55 97 54 75, Fax +47 55 97 54 79
E-Mail helge.boman@gen.haukeland.no Department of Medical Genetics
Regional Hospital of Tromsø
PO Box 55
N-9038 Tromsø
Tel. +47 77 64 54 10, Fax +47 77 64 54 30
E-Mail lisbetht@fagmed.uit.no
Department of Genetics
Section of Molecular Pathology
The Norwegian Radium Hospital
Montebello
N-0310 Oslo
Tel. +47 22 93 56 77, Fax +47 22 93 44 40
E-Mail sverre.heim@labmed.uio.no, all@radium.uio.no
Unit of Medical Genetics
Department of Oncology
The Norwegian Radium Hospital
Montebello
N-0310 Oslo
Tel. +47 2293 4420, Fax +47 2293 5219
E-Mail pmoller@labmed.uio.no
Genetic Section
Department of Occupational and Environmental Medicine
Telemark Central Hospital
N-3710 Skien
Tel. +47 35 58 31 47, Fax +47 35 58 31 05
E-Mail inger-lise.hansteen@tss.telemax.no
Biochemical Genetics Paediatric Research Laboratory
University Hospital
PO Box 1036, Blindem
N-0315 Oslo
Tel. +47 22 11 98 60, Fax +47 22 11 98 99
Department of Clinical Chemistry
University Hospital (Rikshospitalet)
Pilestredet 32 N-0027 Oslo
Tel. +47 22 86 70 10, Fax +47 22 86 70 29
Workloads
Department of Medical Genetics Ullevål | Department of Medical Genetics Haukeland (1994) | Department of Medical Genetics Tromsø (1994) | The Norwegian Radium Hospital (cancer research) | Genetic Section Department of Occupational and Environmental Medicine | Total (1993) | |
---|---|---|---|---|---|---|
Cytogenetic | 1,503 (1994) | 670 (1994) | 681 | 320 (1994) tumour cytogenetic | 155 (1994) | – |
Amnio/CVS | 1,024/36 (1993)b | 215/7 (1994)c | 118/– | –/– | –/– | – |
Molecular genetic analysis | 617 (1994) | 512 (1994) | 860 | 339(1994) | – | |
Number of genetic counsellings | (patient consultations) | |||||
Prenatal | – | 258 (1994) | 152 | – | ||
Others | 433 (1994)d | 107 (1994) | 112 | 683 (1994) |
Patient Organisations
There are a large variety of patient organisations. Information can be obtained at all the regional Departments of Medical Genetics, at Frambu Center and at Smågruppesenteret at the University Hospital, tel. +47 22 86 70 10.
Poland
Departments, Centres and Institutions Involved in Genetic Services
Centre name | Population served | Genetically trained physicians | Genetic physicians in training | Cytogeneticists | Molecular geneticists | Genetic co-workers |
---|---|---|---|---|---|---|
1 Department of Biology and Genetics, Medical School of Gdansk, Fax +48 58 316 115 | 2,370,000 | 2 | 1 | 7 | 2 | – |
2 Department of Medical Genetics, Medical School of Poznan, Fax + 48 61 48 33 62 | 3,700,000 | 4 | 2 | 2 | 1 | – |
3 Department of Human Genetics, Polish Academy of Sciences, Poznan, Fax +48 61 23 32 35 | same population as No. 2 | 2 | – | 4 | 11 | – |
4 Department of Medical Genetics, Polish American Institute, Medical School, Jagiellonian University of Krakow, Fax +48 12 58 44 46 | 6,000,000 | 2 | 1 | 4 | 2 | 1 |
5 Department of Medical Genetics, Medical School of Lodz, Fax +48 42 36 54 27 | 4,500,000 | 6 | – | 7 | 3 | 3 |
6 Department of Genetics, Child Health Centre — Institute, Warszawa, Fax +48 154 015 | 774,000 | 3 | – | 7 | 5 | 2 |
7 Department of Genetics, Institute of Mother and Child, Warszawa, Fax +48 329 454 | 356,000 | 3 | – | 5 | 4 | 1 |
8 Department of Genetics, Institute of Psychiatry and Neurology, Warszawa, Fax +48 642 53 75 | 985,000 | 3 | – | 3 | 3 | 1 |
Workloads
No information is available.
Patient Organisations
There are many patient organisations for different genetic disorders, such as Down syndrome, Turner syndrome, cystic fibrosis, mucopolysaccharidoses, tuberous sclerosis and neuromuscular disorders.
Portugal
Departments, Centres and Institutions Involved in Genetic Services
In Portugal it is impossible to know the exact number of workers in the field of genetics, but as far as the authors know the most relevant centres currently working in genetics are given here.
Serviço de Genetica Medica
Hospital Egas Moniz, Ministry of Health, Lisbon
Clinical genetics, cytogenetics, National Registry of Congenital Anomalies Staff: clinical genetics — 1, non-medical laboratory geneticist — 3, graduate — 1, technician — 2
Cytogenetic studies — 488 (including prenatal)
Patient clinics — 687
Centro de Metabolismos e Genetica
Faculdade de Farmácia de Lisboa, Ministry of Education, Lisbon
Biochemistry, molecular genetics, teaching (biochemistry), research (inborn errors of metabolism)
Staff: paediatrician — 3, researcher — 19, graduate — 3, technician — 2
Biochemical Studies: 1,900
Unidade de Genetica
Hospital D. Estefania, Ministry of Health, Lisbon
Clinical genetics, biochemistry, pregraduate and postgraduate teaching
Staff: clinical geneticist — 1, paediatrician — 1, technician — 1
Biochemical studies: 422
Patient clinics: 3,350
Unidade de Genetica
Serviço de Pediatria, Hospital Santa Maria, Ministry of Health, Lisbon Clinical genetics and cytogenetics; pregraduate teaching (Faculdade de Medicina — Universidade de Lisboa) and postgraduate teaching Staff: clinical geneticist — 3, technician — 2
Cytogenetic studies: 160 (peripheral blood)
Patient clinics: 735
Instituto Dr. Ricardo Jorge, Ministry of Health
Departamento de Genetica Humana, Lisbon
Cytogenetics, molecular biology, research (carcinogenesis, mutagenesis, DNA repair, cystic fibrosis, blood disorders, sex differentiation disorders, chromosome aberrations)
Staff: researcher — 4, graduate — 4, technician — 5
Cytogenetic studies: 1,500 (including prenatal)
DNA samples: 518
Departamento- de Genetica
Universidade Nova de Lisboa, Ministry of Education, Lisbon
Cytogenetics, biochemistry, molecular genetics, pregraduate teaching, research (mutagenesis, oncogenesis, cancer-prone genetic diseases)
Staff: medical laboratory geneticist — 4, non-medical laboratory geneticist — 19, researcher — 18
Laboratory studies: 150
Instituto Dr. Ricardo Jorge, Ministry of Health
Departamento de Biologia Medica, Lisbon
Biochemistry, molecular biology, teaching (postgraduate laboratory technicians), research (metabolic diseases, haemoglobinopathies), National Registry of Haemoglobinopathies
Staff: researcher — 3, graduate — 2, technician — 5
Haemoglobin studies: 3,816
Biochemical studies: 353
G6PD studies: 260
Consulta de Genetica
Hospital Pediátrico, Ministry of Health, Coimbra
Clinical genetics
Staff: clinical geneticist — 1
Molecular studies: 132
Patient clinics: 303
Serviço de Genetica Medica
Faculdade de Medicina da Universidade de Coimbra, Ministry of Education, Coimbra
Cytogenetics, molecular genetics and pre- and postgraduate teaching, research (fragile X, carcinogenesis)
Staff: medical doctor — 3 (1 clinical geneticist: J. Saraiva), technician — 1
Molecular studies: 1,432
Instituto de Biologia Medica
Faculdade de Medicina da Universidade de Coimbra, Ministry of Education, Coimbra
Cytogenetics, postgraduate teaching
Staff: clinical geneticist — 1, non-medical laboratory geneticist — 1, researcher — 1, graduate — 3, technician — 2
Cytogenetic studies: 614 (including prenatal) Serviço de Genetica Medica
Faculdade de Medicina da Universidade do Porto, Ministry of Education,
Porto
Clinical genetics, cytogenetics, molecular genetics, pre- and postgraduate teaching, research (cystic fibrosis, polycystic kidney disease)
Staff: clinical geneticist — 6, paediatrician — 2, medical laboratory geneticist — 3, non-medical laboratory geneticist — 3, graduate — 1, technician — 10
Cytogenetic studies: 1,433 (including prenatal)
Patient clinics: 2,065
Unidade de Genetica IPATIMUP
Faculdade de Medicina da Universidade do Porto, Ministry of Education,
Porto
Cytogenetics, molecular genetics, pre- and postgraduate teaching, research (cancer cytogenetics and molecular biology, Prader-Willi, Angelman syndrome)
Staff: clinical geneticist — 1, medical laboratory geneticist — 5, researcher — 3, graduate — 3, technician — 2
Cytogenetic studies: 1,028
Molecular studies: 260
Instituto de Genetica Medica (IGM), Ministry of Health, Porto
Clinical genetics, cytogenetics, molecular genetics, postgraduate teaching, research (molecular and biochemical studies on metabolic diseases including mitochondrial diseases), National Newborn Screening Programme
Staff: clinical genetics — 2, paediatrician — 1, medical laboratory geneticist — 2, researchers — 5, graduate — 10, technician — 21
Cytogenetic studies: 1,418
Patient clinics: 3,185
Molecular genetics: 1,837
Enzymes: 9,501
Biochemical studies: 8,286
Newborn screening: 219,809
Laboratorio de Genetica Medica (ICBAS)
Universidade do Porto, Ministry of Education, Porto
Pre- and postgraduate teaching and research (Machado Joseph disease)
Staff: clinical genetics — 1, neurologist — 1, researcher — 6
Consulta de Genetica
Hospital D. Maria Pia, Ministry of Health, Porto
Clinical genetics, postgraduate teaching
Staff: clinical geneticist — 1
Patient clinics: 586
Centro de Genetica Clinica e Patologia, Porto (private)
Clinical genetics, cytogenetics, biochemistry, molecular genetics
Staff: clinical geneticist — 2, non-medical laboratory geneticist — 8
Cytogenetic studies: 1,190 (including prenatal)
Patient Organisations
Down syndrome, cystic fibrosis, neural tube defects, osteogenesis, haematological diseases, metabolic diseases, neuromuscular diseases and others. In recent years, genetic patients’ organisations and the media have made an important contribution to education.
Romania
Numbers of Staff Involved in Medical Genetic Service Provision
No information is available.
Departments, Centres and Institutions Involved in Genetic Services
No information is available.
Workloads
No information is available.
Patient Organisations
No information is available.
Russia
Numbers of Staff Involved in Medical Genetic Service Provision
Genetically trained physicians: 300
Genetic physicians in training: 60
Cytogeneticists: 215
Molecular geneticists: 50
Departments, Centres and Institutions Involved in Genetic Services
Federal Medical Genetic Centres
Research Centre for Medical Genetics
Mosckvorechie 1
RUS-5478 Moscow II
Tel. +7 095 111 85 80, Fax +7 095 324 07 02
Research Institute for Medical Genetics poselok
RUS-634058 Sputnick Tomsk
Tel. +7 3822 22 22 28, Fax +7 3822 22 37 44
Laboratory prenatal diagnosis of inherited disorders
Institute of Obstetrics and Gynaecology
Mendeleevskaya line 3
RUS-199034 St. Petersburg
Tel./Fax +7 812 218 04 87, Fax +7 812 218 23 61
Department of Clinical Genetics,
Research Institute of Paediatries and Infant Surgery
Taldomskaya 2
Moscow
Tel. +7 095 487 42 79, Fax +7 095 483 33 35
Research Centre of Perinatology, Obstetrics and Gynaecology
Oparina 4
RUS-117815 Moscow
Tel. +7 095 438 24 11, Fax +7 095 438 49 65
Children’s Psychiatric Clinic No. 6
5 Donskoy Pr. 21a
RUS-117334 Moscow
Tel. +7 095 954 37 67, Fax +7 095 952 51 51
Medical Genetics Department
Medical Stomatological Institute
Delegatskaya st 20
RUS-103473 Moscow
Tel. +7 095 113 96 66
Workloads
Monogenic disorders amenable to molecular diagnosis
Cystic fibrosis: SP, M, T, N |
Duchenne muscular dystrophy: SP, M, T |
Haemophilia a: SP, M |
Haemophilia b: SP, M |
PKU: SP, M, T |
Fragile X-A and X-B: SP, M |
Myotonic dystrophy: SP |
Huntington disease: SP, M |
Kennedy disease: SP |
von Willebrand disease: SP, M |
Friedreich ataxia: M |
Spinal muscular atrophy: M |
Lesch-Nyhan syndrome: SP |
Hunter syndrome: SP, M |
Familial hypercholesterolaemia: SP |
Stunted death syndrome: SP |
β-Thalassaemia: SP, M |
Antitrypsin deficiency: SP |
Type I diabetes predispositions: SP |
Alport syndromes: M |
Adrenogenital syndrome: M |
Charcot-Marie-Tooth: M Hepatolenticular degeneration (Wilson disease): M |
Number of diagnostic samples analysed in 1994
Samples | Genetic Counselling Units | Federal Medical Genetics Centres |
---|---|---|
Cytogenetics | ||
Karyotypes | ||
Postnatal | 23,000 | 1,700 |
Prenatal | 590 | 820 |
Molecular genetics | ||
Analysis | ||
Postnatal | – | 1,000 |
Prenatal | – | 100 |
Biochemical genetics | ||
Postnatal | 740,000 | 95,000 |
Prenatal | – | 140 |
Genetic consultation | ||
Primary | 79,730 | 16,500 |
Secondary | 78,750 | 10,200 |
Patient Organisations
Federal Cystic Fibrosis Association
Federal Neuromuscular Disorders Association
All-Russian Association of Invalids
Association of Parents and Disabled Children Suffering from Illnesses of Adrenals: ‘Second Life’
Serbia
Departments, Centres and Institutions Involved in Genetic Services
Centre for Medical Genetics
Institute of Health Care for Children
Novi Sad
Institute of Biology and Human Genetics
Faculty of Medicine
Belgrade
Faculty of Stomatology
Institute
Belgrade
Institute for Mental Health
Genetic Department
Belgrade
Mother and Child Institute
Genetic Department
New Belgrade
Zvezdara Medical Centre
Belgrade
Workloads
No information is available.
Patient Organisations
Cystic Fibrosis Association, Association of Invalids, Association of Diabetic Patients
Slovenia
Numbers of Staff Involved in Medical Genetic Service Provision
Centre name | Genetically trained physicians | Physicians in genetic training | Cytogeneticists | Molecular geneticists | Genetic nurses/counselors |
---|---|---|---|---|---|
Laboratories | |||||
Division of Medical Genetics, Department of Obstetrics and Gynaecology, University | |||||
Medical Centre, Ljubljana | 2 | 2 | 2 | 2 + 3a | 0 |
Department of Medical Genetics, Institute of Public Health, Republic of Slovenia | 1 | 0 | 1 | 0 | 0 |
Department for Laboratory Diagnostics and Mutagenesis, Institute of Occupational Safety | 0 | 0 | 1 | 0 | 0 |
Cytogenetics Laboratory, Maribor | 0 | 0 | 2 | 0 | 0 |
Institute of Prenatal and Postnatal Diagnosis | 1 | 0 | 1 | 0 | 0 |
Molecular genetic laboratories | |||||
Laboratory for Molecular Pathology, Institute of Pathology, Medical Faculty | 0 | 0 | 0 | 2a | 0 |
Institute of Biochemistry, Medical Faculty | 1b | 0 | 0 | 5a | 0 |
Blood Transfusion Center of Slovenia, Tissue Typing Centrec | 0 | 0 | 0 | 2 | 0 |
Laboratory of Haemogenetics, Institute of Forensic Medicine, Medical Facultyd | 1e | 0 | 0 | 1 | 0 |
Departments, Centres and Institutions Involved in Genetic Services
Division of Medical Genetics
Department of Obstetrics and Gynaecology
UMCL, Ljubljana
Tel. +386 61 14 01 137, Fax +386 61 315 328
E-Mail borut.peterlin@gest.arnes.si
Department of Medical Genetics
Institute of Public Health
Ljubljana
Tel. +386 61 312 462
Cytogenetic Laboratory
Maribor Teaching Hospital
Maribor
Tel. +386 62 37 221/38, Fax +386 62 35 136
Department for Laboratory Diagnostic and Mutagenesis
Institute of Occupational Safety
Ljubljana
Tel. +386 61 132 02 53/277, Fax +386 61 312 562
Institute for Prenatal and Postnatal Diagnosis
Postojna
Tel. +386 67 24 758, Fax +386 67 24 758
Institute of Biochemistry
Medical Faculty of Ljubljana
Ljubljana
Tel. +386 61 132 00 19, Fax +386 61 132 00 16
E-Mail komel@ibmi.mf.uni-lj.si
Laboratory for Molecular Pathology
Institute of Pathology
Medical Faculty Ljubljana
Tel. +386 61 316 277, Fax +386 61 301 816
E-Mail glavac@ibmi.mf.uni-lj.si
Laboratory for Haemogenetics
Institute of Forensic Medicine
Medical Faculty Ljubljana
Tel. +386 61 443 903, Fax +386 61 443 864
Blood Transfusion Center of Slovenia
Tissue Typing Centre
Ljubljana
Tel. +386 61 302 313, Fax +386 6113 12 304
E-Mail matiaz.jeras@ibmi.mf.uni-lj.si
Workloads
Number of genetic counselling and diagnostic samples analysed in 1995 (January 1-December 31) or 1996 (January 1-November 1)
Centre/laboratory | Investigation | |||||
---|---|---|---|---|---|---|
genetic counselling | cytogenetics | molecular genetics | ||||
general | prenatal | postnatal | prenatal | general | prenatal | |
Division of Medical Genetics, Department of Obstetrics and Gynaecology, | ||||||
University Medical Centre, Ljubljana | 217 | 781 | 272 | 781 | 97 | 3 + 11a |
Cytogenetic Laboratory Maribor | – | – | 164 | 44 | – | – |
Department of Medical Genetics, Institute of Public Health | – | – | 283 | – | – | – |
Department for Laboratory Diagnostic and Mutagenesis, | ||||||
Institute of Occupational Safety | 972 | – | – | – | ||
Institute of Biochemistry, Medical Faculty | – | – | – | – | 67 | 9 |
Laboratory for Molecular Pathology, Institute of Pathology, Medical Faculty | – | – | – | – | 7 | 1 |
Blood Transfusion Centre of Slovenia, Tissue Typing Centre | – | – | – | – | 450b | – |
Laboratory for Haemogenetics, Institute of Forensic Medicine, Medical Faculty | – | – | – | – | 29c | – |
Patient Organisations
No information is available.
Spain
Departments, Centres and Institutions Involved in Genetic Services, 1996
Autonomous community (population served) | Centre/unit name and address | Genetically trained physicians | Genetically trained scientists | Geneticists in training |
---|---|---|---|---|
Andalucia | Hospital Reina Sofía, Avda. Menendez Pidal, s/n, E-14004 Cordoba, | |||
(7,000,000) | Tel. +34 57 217000, Fax +34 57 202542 | 1 | 0 | 0 |
Hospital Universitario, Avda. Oloriz, 16, E-18012 Granada, | ||||
Tel. +34 58 270200 | 3 | 0 | 0 | |
H. Virgen de las Nieves, Avda. Fuerzas Armadas, E-13014 Granada, | ||||
Tel. +34 58 241110, Fax +34 58 283147 | 2 | 0 | 0 | |
Hospital Materno-Infantil, Arroyo de los Angeles s/n, E-29011 Málaga, | ||||
Tel. +34 58 2304400, Fax +34 58 2275763 | 3 | 0 | 0 | |
Hospital Universitario V. Macarena, Sanchez Pizjuan, s/n, E-41009 Sevilla, | ||||
Tel. +34 5 4901873, Fax +34 5 4371284 | 2 | 0 | 0 | |
Hospital Universitario V. Rocio, Manuel Siurot, s/n, E-41013 Sevilla, | ||||
Tel. +34 5 4248009, Fax + 34 5 4388111 | 2 | 1 | 2 | |
Aragon | Hospital Clínico Universitario, San Juan Bosco, 15, E-50009 Zaragoza, | |||
(1,200,000) | Tel. + 34 76 556400 | 2 | 0 | 0 |
Hospital Miguel Servet, Plaza Isabel la Católica 1 & 3, E-50009 Zaragoza, | ||||
Tel. +34 76 354316, Fax + 34 76 351893 | 4 | 6 | 1 | |
Asturias | Hospital Central Asturias, Celestino Villasmil, s/n, E-33006 Oviedo, | |||
(1,100,000) | Tel. + 34 8 108000, Fax +34 8 108015 | 4 | 1 | 0 |
Baleares | Hospital Son Dureta, Avda. Andrea Doria, 55, E-07014 Palma de Mallorca, | |||
(700,000) | Tel. + 34 71 175000, Fax + 34 71 175500 | 1 | 1 | 1 |
C. Detección Precoz & C. Genético, Cecilio Melero, 18, E-07003 Palma de Mallorca, | ||||
Tel. + 34 71 726860, Fax +34 71 718701 | 2 | 0 | 0 | |
Canarias | Hospital Materno Infantil, Avda. Maritima, s/n, E-35016 Las Palmas, | |||
(1,500,000) | Tel. + 34 28 321222 | 1 | 2 | 0 |
Facultad de Medicina, Campus de Ofra. Carr La Cuesta-Taco, E-37071 La Laguna, Tenerife, | ||||
Tel. +34 22 603450, Fax +34 22 603407 | 2 | 1 | 1 | |
Cantabria | Hospital Valdecilla, Valdecilla, E-39011 Santander, | |||
(525,000) | Tel. +34 42 202520, Fax +34 42 202720 | 3 | 0 | 0 |
Castilla-La Mancha | Hospital Nacional de Paraplégicos, La Perelada, s/n, E-45071 Toledo, | |||
(1,700,000) | Tel. +34 25 269310, Fax +34 25 216612 | 1 | 1 | 4 |
Cataluña | Instituto Bioquímica Clínica, C/ Mejia Lequerico, s/n, Edificio Helios planta baja, | |||
(6,000,000) | E-08028 Barcelona, Tel. +34 3 227 5600, Fax +34 3 227 5668 | 1 | 13 | 7 |
H. Materno-Infantil Vall d’Hebron, P. Vall d’Hebron, 119–129, E-08035 Barcelona, | ||||
Tel. +34 3 4272000, Fax +34 3 4282171 | 2 | 4 | 0 | |
H. de la Santa Creu i Sant Pau, Padre Claret 167, E-08025 Barcelona, | ||||
Tel. +34 3 2919361, Fax +34 3 2919192 | 1 | 5 | 8 | |
Hospital Clinic, Villarroel 170, E-08036 Barcelona, | ||||
Tel. +34 3 2275510, Fax +34 3 2275454 | 3 | 6 | 6 | |
Instituto Resercha Oncologica, Autovía Casteldefells, Km 2,7, E-08907 Hospitalet, | ||||
Tel. +34 3 3357152, Fax +34 3 2632251 | 2 | 7 | 20 | |
Consorci Hospitalari Parc Tauli, Parc Tauli, E-08208 Sabadell, | ||||
Tel. +34 3 285400 | 1 | 1 | 3 | |
Galicia | H. Materno-Infantil Teresa Herrera, Avda. del Pasaje s/n, E-15006 La Coruña, | |||
(2,700,000) | Tel. +34 81 285400 | 1 | 2 | 0 |
Centro Oncológio de Galicia, Avda. Monserrat, s/n, E-15006 La Coruña, | ||||
Tel. +34 81 287499, Fax +34 81 287122 | 1 | 1 | 0 | |
H. General de Galicia & H. Gil Casas, Galera, s/n, E-15705 Santiago de Compostela, | ||||
Tel. +34 81 570122 | 2 | 0 | 0 | |
Madrid | Fundación Jimenez Diaz, Avda. Reyes Católicos, 2, E-28040 Madrid, | |||
(5,000,000) | Tel. +34 1 5449223, Fax +34 1 5494764 | 1 | 4 | 6 |
Hospital Ramón y Cajal, Ctra. Colmenar, Km 9,100, E-28034 Madrid, | ||||
Tel. +34 1 3368334/3368541, Fax +34 1 3369016 | 7 | 4 | 6 | |
Hospital La Paz, Paseo de la Castellan, 261, E-28046 Madrid, | ||||
Tel. +34 1 3582600, Fax +34 1 7291179 | 2 | 1 | 0 | |
Hospital de Móstoles, C/ Rio Júcar, s/n, E-28935 Móstoles, Madrid, | ||||
Tel. +34 1 6243000 | 0 | 2 | 0 | |
Hospital 12 Octubre, Carretera Andalucía, Km 5,400, E-248041 Madrid, | ||||
Tel. +34 1 3908326/3908315, Fax +34 1 4603310 | 5 | 3 | 0 | |
Murcia | Instituto Bioquímica Clínica, Apartado de correos 61, E-31100 Espinardo, Murcia, | |||
(1,000,000) | Tel. +34 68 307227, 307239, Fax +34 68 305005 | 0 | 4 | 0 |
Navarra | Hospital Virgen del Camino, Irunlarrea, s/n, E-31008 Pamplona, | |||
(500,000) | Tel. +34 48 109990, Fax +34 48 170515 | 2 | 2 | 4 |
P. Valenciano | Universitat d’Alicant, Campus de Sant Joan. Apart. correos 374, E-03080 Alicante, | |||
(3,900,000) | Tel. +34 7 5903843, Fax +34 7 5903839 | 1 | 0 | 2 |
Hospital La Fe, Campanar, s/n, E-46009 Valencia, | ||||
Tel. +34 6 3822700, Fax +34 6 3868789 | 4 | 1 | 4 | |
Dpto. Patología, Universidad de Valencia, Avda. Blasco Ibañez, 17, E-46010 Valencia, | ||||
Tel. +34 6 3864146, Fax +34 6 3864173 | 2 | 3 | 1 | |
Pais Vasco | Hospital Civil Basurto, C/ Montevideo, s/n, E-48013 Bilbao, | |||
(2,100,000) | Tel. +34 4 4416988, Fax +34 4 4425804 | 1 | 2 | 2 |
Residencia S. Enrique Sotomayor, Plaza Cruces, s/n, Baracaldo, Vizcaya, | ||||
Tel. +34 4 4903100, Fax +34 4 4992945 | 1 | 0 | 0 | |
Policlínica Guipúzcoa, Parque Miramón, 174, E-20011 San Sebastian, | ||||
Tel. +34 43 462200, Fax +34 43 471109 | 1 | 1 | 0 |
Workloads
No information is available.
Patient Organisations
Asociación celiaca en España
Asociación de la corea de Huntington en España
Asociación española de enfermedad de Alzheimer
Asociación española de ataxias hereditarias
Asociación española de cardiopatías congénitas
Asociación española de enfermedades musculares
Asociación española de esclerodermia
Asociación española de la lucha contra la hipertensión
Asociación española de lupus
Asociación española del síndrome de Sjogren
Asociación española para el estudio de la distonías
Asociación española de esclerosis múltiple
Asociación española para el síndrome de Prader-Willi
Asociación española de la lucha contra la epilepsía
Asociación española para pacientes con tics y síndrome de la
Tourette
Asociación española de espondilitis anquilosante
Asociación de asociados de psoriasis
Federación española de fibrosis quística
Federatión española de diabetes
Federación española de retinosis pigmentaria
Parkinson en España
Sociedad española para la investigation y estudio de la espina bífida
Sweden
Numbers of Staff Involved in Medical Genetic Service Provision
Genetically trained physicians | Cyto geneticists | Molecular geneticists | Genetic counsellors |
---|---|---|---|
16 | 10 PhD hospital specialists, | 1 | |
80 technical staff |
Departments, Centres and Institutions Involved in Genetic Services
Regional clinical genetic centres with specialist training
Department of Clinical Genetics
East Hospital
S-41685 Göteborg
Tel. +46 31 37 4000, Fax +46 31 55 4025
Department of Clinical Genetics
University Hospital
S-22185 Lund
Tel. +46 46 17 3362, Fax +46 46 13 1061
Department of Clinical Genetics
Karolinska Hospital
S-17176 Stockholm
Tel. +46 8 5177 0000, Fax +46 8 5177 3926
Department of Clinical Genetics
University Hospital
S-90185 Umeå
Tel. +46 90 10 1000, Fax +46 90 12 8163
Department of Clinical Genetics
Academic Hospital
S-75185 Uppsala
Tel. +46 18 66 3000, Fax +46 18 55 4025
University departments of medical genetics
Department of Medical Genetics
Uppsala University
S-75123 Uppsala
Tel. +46 18 17 4580, Fax +46 18 52 6849
Department of Medical Genetics
University Hospital
S-90185 Umeå
Tel. +46 90 10 1320, Fax +46 90 10 3593
Clinical genetic laboratories with restricted service
Department of Clinical Genetics
University Hospital
S-58185 Linköping
Tel. +46 13 22 2000, Fax +46 13 14 8156
Cytogenetic Laboratory
Department of Pathology
Central Hospital
S-54185 Skövde
Tel. +46 500 43 1000, Fax +46 500 43 8156
Other laboratories performing specialised genetic testing
PKU laboratory
Huddinge Hospital, S31
S-14186 Huddinge
Tel. +46 8 746 1390, Fax +46 8 746 1395
Department of Clinical Chemistry
Huddinge Hospital
S-14186 Huddinge
Tel. +46 8 746 1072, Fax +46 8 746 1698
Department of Coagulation Disorders
Malmö University Hospital
S-20502 Malmö
Tel. +46 40 33 2392, Fax +46 40 33 6255
Neurochemistry Unit
Department of Clinical Chemistry and Neurochemistry
Mölndal Hospital
S-43180 Mölndal
Tel. +46 31 86 2415, Fax +46 31 2426
Department of Clinical Chemistry
Sahlgrenska Hospital
S-41345 Göteborg
Tel. +46 31 60 2430, Fax +46 31 82 7610
Training authorities
Socialstyrelsen (National Board of Health and Welfare) RT-S
S-10630 Stockholm
Tel. +46 8 783 30 00, Fax +46 8 663 92 90
National union
The Swedish Medical Association
Box 5610
S-11486 Stockholm
Workloads
Hereditary disorders locally common in Sweden
Autosomal dominant disorders | Autosomal recessive disorders | X-linked disorders |
---|---|---|
Adynamia episodica hereditaria — Mb Gamstorp S | Childhood deafness N | Fragile X syndrome N |
Nephrogenic diabetes insipidus | ||
Acute intermittent porphyria — Mb Waldenström N | Charcot-Marie-Tooth disease N, S | |
Amelogenesis imperfecta N | Congenital myotony — Becker type N | |
Charcot-Marie-Tooth disease type 1a N | Epidermolysis bullosa hereditaria letalis — | |
Mb Herlitz N | ||
Congenital dyserythropoetic anaemia type III N | Mb Gaucher type III N | |
Congenital myotonia N | Haemochromatosis N | |
Distal muscular atrophy — Mb Velander S | Hereditary fructose intolerance N | |
Essential tremor N | Hereditary glucose-galactose malabsorbtion N | |
Familial amyloidosis with polyneuropathy N | Infantile genetic agranulocytosis — Mb Kostman N | |
Hereditary macular degeneration — Mb Best N | Olivopontocerebellar atrophy type III N | |
Huntington disease N, S | Osteopetrosis N | |
Hyperkeratosis palmaris et plantaris N | Progressive myoclonic epilepsy — Unvericht-Lundborg type S | |
Myoclonic dystonia S | Sjögren-Larsson syndrome N | |
Torsion dystonia N | Spinal muscular atrophy — Kugelberg-Welander N, S |
Number of clinical samples in the seven genetic laboratories in Sweden, 1996
Genetic centre | Gothenburg | Linköping | Lund | Skövde | Stockholm | Umeå | Uppsala | Total |
---|---|---|---|---|---|---|---|---|
Cytogenetic analyses | ||||||||
Amniocentesis | 994 | 482 | 1,042 | 158 | 2,320 | 341 | 422 | 5,759 |
CVS | 92 | 12 | 26 | 39 | 144 | 37 | 233 | 583 |
Total prenatal | 1,086 | 494 | 1,068 | 197 | 2,464 | 378 | 655 | 6,342 |
Blooda | 953 | 135 | 639 | 221 | 992 | 505 | 558 | 4,003 |
Bone marrowb | – | – | 379 | 75 | 404 | 341 | 372 | 1,571 |
Solid tumours | – | – | 176 | 23 | 16 | – | 6 | 221 |
Molecular analyses | ||||||||
Totalc | 441 | – | 228 | 79 | 612 | 415 | 668 | 2,443 |
Prenatal | 29 | – | 12 | – | 40 | – | 32 | 113 |
Patient organisations
No information is available.
Switzerland
Departments, Centres and Institutions Involved in Genetic Services
No information is available.
Workloads
No information is available.
Patient Organisations
No information is available.
Turkey
Departments, Centres and Institutions Involved in Genetic Services
Hacettepe University Faculty of Medicine
Department of Paediatrics
Division of Medical Genetics
TR-06100 Sihhiye, Ankara
Tel. +90 312 3115522, Fax +90 312 3115522
E-Mail etuncbilek@genetic.gen.hun.edu.tr
Osmangazi University
Faculty of Medicine
Department of Medical Genetics-GENTAM
Eskisehir
Tel. +90 222 2393771, Fax +90 222 2392986
Hacettepe University
Faculty of Medicine
Department of Medical Biology
TR-06100, Sihhiye, Ankara
Tel. +90 312 3107645
Karadeniz Technical University
Faculty of Medicine
Head of the Department of Medical Biology
Trabzon
GATA, Medical Genetics Department
TR-06010 Etlik, Ankara
Tel. +90 312 3251211, Fax +90 312 4278674
Akdeniz University
Faculty of Medicine
Head of the Department of Medical Biology
TR-07070 Antalya
Bilkent University
Department of Molecular Biology
Bilkent
Ankara
Tel. +90 312 2665081, Fax +90 312 2665097
Firat University
Faculty of Medicine
Head of the Department of Medical Biology
Elazig
Ankara University
Faculty of Medicine
Head of the Department of Medical Biology
TR-06100 Ankara
Tel. +90 312 3103010/388, Fax +90 312 3100805
E-Mail autbio-e@servis.net.tr
19 Mayis University
Faculty of Medicine
Head of the Department of Medical Biology
TR-55139 Samsun
Ege University
Faculty of Medicine
Department of Genetics and Peratology
TR-335100 Bomova, Izmir
Tel. +90 232 4214352, Fax +90 232 4633916
Cumhuriyet University
Faculty of Medicine
Head of the Department of Medical Biology
Sivas
Istanbul University
Cerrahpasa Medical School
Department of Medical Biological Science
Istanbul
Tel. +90 212 5293340/5852197/5884800 1801, Fax +90 212 5299433
Dicie University
Faculty of Medicine
Head of the Department of Medical Biology
Diyarbakir
9 Eylül University
Faculty of Medicine
Department of Medical Biology
Izmir
Tel. +90 232 2788412, Fax +90 232 2788412
Istanbul University
Institute of Child Health
PRETAM Millet cad. 34390 çapa
Istanbul
Tel. +90 212 6311363, Fax +90 212 6311363
Marmara University
Faculty of Medicine
Head of the Department of Medical Biology
Istanbul
Tel. +90 212 5181617, Fax +90 212 5181615
9 Eylül University
Faculty of Medicine
Clinic Genetics Unit
Izmir
Tel. +90 232 2788412, Fax +90 232 2788412
Bogaziçi University
Department of Biology, Chairman
Istanbul
Gazi University
Faculty of Medicine
Department of Medical Biology
Ankara
Istanbul University
Istanbul Medical Faculty
Department of Internal Medicine
Istanbul
Çukurova University
Faculty of Medicine
Department of Biology
Adana
Selçuk University
Faculty of Medicine
Head of the Department of Medical Biology
Konya
Atatürk University
Faculty of Medicine
Head of the Department of Medical Biology
Erzurum
Workloads
Institution | Peripheral Bone | Amniocentesis | CVS | Cord | |
---|---|---|---|---|---|
blood | marrow | ||||
Akdeniz Univ. | 513 | 52 (+40 solid tumours) | 20 | ||
AU. Obst.-gynecol. | 34 | 13 | 18 | ||
AU Medical Biology | 838 | 245 | 9 | 7 | |
Ataturk Univ. | 340 | ||||
Celal Bayar Univ. | 20 | 1 (+5 effusions) | 5 | ||
Cumhuriyet Univ. | 190 | ||||
Cukurova Univ. | 1,133 | 10 | 11 | ||
9 Eylul Univ. | 334 | 82 (+27 solid tumours) | 47 | 2 | 19 |
Ege Univ. | 800 | 200 | 17 | 35 | |
Erciyes Univ. | 385 | 60 | 5 | ||
Firat Univ. | 60 | ||||
GMMA | 700 | 250 | 100 | ||
Gazi Univ. | 250 | 100 | 10 | ||
Gaziantep Univ. | 92 | 15 | |||
Eskisehir Univ. (Gentam) | 628 | 81 (+27 solid tumours) | 362 | 54 | 46 |
Hacettepe Univ. | 695 | 92 | 472 | 85 | |
IU Cerrahpasa (Gentam) | 480 | ||||
IU Cerrahpasa | 241 | ||||
IU Capa (Pretam) | 674 | 643 | 70 | 226 | |
IU Capa Internal Medicine | 589 | 143 | 13 | 4 | |
Karadeniz Univ. | 360 | ||||
19 Mayis Univ. | 284 | ||||
Selcuk Univ. | 550 | ||||
Sevgi Hospitala | 162 | 1 | 49 | 1 | |
Uludag Univ. | 50 | 8 | |||
Zekai Tahir Burak Hospital3 | 163 | 44 | 7 |
Patient organisations
No information is available.
Ukraine
Departments, Centres and Institutions Involved in Genetic Services
Kiev International Medico-Genetic Centre
Kosiora st. 28/1
UKR-252135 Kiev
Tel. +380 44 274 1276
Kharkov Interregional Medico-Genetic Centre
Tobolskaya st 42-A
UKR-310072 Kharkov
Tel. +380 572 3224 442
Donetsk Interregional Medico-Genetic Centre
Artem st. 57
UKR-340000 Donetsk
Tel. +380 622 902 442, Fax +380 622 350 044
Krivoi Rog Interregional Medico-Genetic Centre
Osvobozhdeniya pl. 3
UKR-324099 Krivoi Rog
Tel. +380 564 297 315, Fax +380 564 295 583
Lvov Interregional Medico-Genetic Centre
Lysenko st. 31-A
UKR-290004 Lvov
Tel. +380 322 765 499
Odessa Interregional Medico-Genetic Centre
Naromanova st. 2
UKR-270100 Odessa
Tel. +380 480 686 051
Sympheropol Interregional Medico-Genetic Centre
Khmelnysky st. 16
UKR-333000 Simpheropol
Tel. +380 6522 274 972
Workloads
No information is available.
Patient Organisations
No information is available.
United Kingdom
Departments, Centres and Institutions Involved in Genetic Services
For information please contact authors:
Prof. A. Raeburn
The Gables
City Hospital
Hucknall Road
Nottingham
NG5 1PB
Tel. +44 115 962 7712
Fax +44 115 962 7711
Mr. A. Kent
Director
Genetic Interest Group
Farringdon Point
29–35 Farringdon Road
London EC1M 3JB
Tel. +44 171 430 0090
Fax +44 171 430 0092
Mr. J. Gillott
Policy Director
Genetic Interest Group
Farringdon Point
29–35 Farringdon Road
London EC1M 3JB
Tel. +44 171 430 0090
Fax +44 171 430 0092
E-Mail sandy.raeburn@nottingham.ac.uk
Workloads
Further information is available from the authors.
Patient Organisations
The Genetic Interest Group (GIG) will provide full details of member organisations:
Genetic Interest Group
Farringdon Point
29–35 Farringdon Road
London EC1M 3JB
Tel. +44 171 430 0090, Fax +44 171 430 0092
In addition ‘Contact-a-family’ has a special role in putting families with a specific condition in touch with other families who are involved.
Contact-a-family
170 Tottenham Court Road
London, WIT 0HA
Tel. +44 171 383 3555, Fax +44 171 383 0259+
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Data Annex. Eur J Hum Genet 5 (Suppl 2), 196–220 (1997). https://doi.org/10.1007/BF03406004
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DOI: https://doi.org/10.1007/BF03406004