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Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion
FXN
Friedreich ataxia
Centrum Menselijke Erfelijkheid - KUL
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Autosomal recessive polycystic kidney disease
,
Autosomal dominant polycystic kidney disease
,
Isolated polycystic liver disease
,
Infantile nephronophthisis
,
Juvenile nephronophthisis
,
Late-onset nephronophthisis
,
Bardet-Biedl syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Gaucher disease diagnostic (GBA gene sequencing)
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )
GBA1
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease
Gaucher disease type 1
,
Gaucher disease type 2
,
Gaucher disease type 3
,
Fetal Gaucher disease
Centrum Medische Genetica - UZ Brussel VUB
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
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