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Laboratory
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
,
TBP
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
,
Spinocerebellar ataxia type 17
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion
ATXN1
,
ATXN2
,
ATXN3
,
CACNA1A
,
ATXN7
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB
Spinocerebellar ataxia type 1
,
Spinocerebellar ataxia type 2
,
Machado-Joseph disease type 3
,
Spinocerebellar ataxia type 6
,
Spinocerebellar ataxia type 7
Centrum Medische Genetica - UZ Brussel VUB
Medulloblastoma (gene panel)
SUFU
,
TP53
,
PTCH1
Medulloblastoma (3 genes) - KUL
Medulloblastoma
Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (3 genes)
PTCH1
,
PTCH2
,
SUFU
Medulloblastoma (3 genes) - UCL
Medulloblastoma
,
Gorlin syndrome
Centre de Génétique Médicale UCL
filaggrin gene
FLG
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
,
DERMATITIS, ATOPIC
Centre de Génétique Humaine - CHU Sart-Tilman
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