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Waardenburg syndrome (gene panel)
EDN3
,
EDNRB
,
MITF
,
PAX3
,
SNAI2
,
SOX10
Waardenburg syndrome (6 genes) - UZA
Waardenburg syndrome type 1
,
Waardenburg syndrome type 2
,
Waardenburg syndrome type 3
,
Waardenburg-Shah syndrome
Centrum Medische Genetica - UZ Antwerpen
Deafness, X-linked
POU3F4
Rare mitochondrial non-syndromic sensorineural deafness
,
Xq21 microdeletion 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
MODY : Maturity onset Diabete of the Young (gene panel)
ABCC8
,
GCK
,
HNF1A
,
HNF4A
,
HNF1B
,
INS
,
KCNJ11
MODY - Maturity onset Diabete of the Young (21 genes) - IPG
MODY
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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