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Analytes
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Multiple epiphyseal dysplasia
COL2A1
,
SLC26A2
Multiple epiphyseal dysplasia type 4
Centrum Medische Genetica - UZ Gent
Alzheimer disease (gene panel)
APP
,
PSEN1
,
PSEN2
,
APOE
Early-onset autosomal dominant Alzheimer disease
,
Behavioral variant of frontotemporal dementia
,
Semantic dementia
,
Progressive non-fluent aphasia
Centre de Génétique Humaine - Erasme ULB
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
FRMD7-related infantile nystagmus / Nystagmus, infantile periodic alternating, X-linked
FRMD7
Nystagmus, infantile periodic alternating, X-linked
Centrum Medische Genetica - UZ Gent
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