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Analytes
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Laboratory
Oculopharyngeal Muscular Dystrophy - GCN repeats expansion
PABPN1
Oculopharyngeal muscular dystrophy
Centrum Menselijke Erfelijkheid - KUL
Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats
PABPN1
Oculopharyngeal muscular dystrophy
Centrum Medische Genetica - UZ Brussel VUB
Brain malformations (gene panel)
Brain malformations (34 genes) - ULB
Septopreoptic holoprosencephaly
,
Semilobar holoprosencephaly
,
Pituitary stalk interruption syndrome
,
Midline interhemispheric variant of holoprosencephaly
,
Lobar holoprosencephaly
,
Alobar holoprosencephaly
,
Encephalocraniocutaneous lipomatosis
,
Hartsfield syndrome
,
Non-syndromic metopic craniosynostosis
,
Pfeiffer syndrome type 1
,
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
,
Combined pituitary hormone deficiencies, genetic forms
,
Situs ambiguus
,
Situs inversus totalis
,
Gorlin syndrome
,
Schilbach-Rott syndrome
,
Triphalangeal thumb-polysyndactyly syndrome
,
Acquired schizencephaly
,
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
,
Radial hemimelia
,
Polydactyly of a triphalangeal thumb
,
Syndactyly type 4
,
Acrocallosal syndrome
,
Desmoplastic/nodular medulloblastoma
,
Familial multiple meningioma
,
Meningioma
,
Congenital non-communicating hydrocephalus
,
MASA syndrome
,
X-linked complicated corpus callosum dysgenesis
,
X-linked complicated spastic paraplegia type 1
,
Congenital communicating hydrocephalus
Centre de Génétique Humaine - Erasme ULB
Hearing loss, STRC gene
STRC
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centrum Medische Genetica - UZ Antwerpen
Recessive nonsyndromic hearing loss and deafness DFNB (2 genes)
GJB2
,
GJB6
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal recessive 1A
GJB2
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes)
GJB2
,
GJB6
,
STRC
,
OTOA
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - Erasme ULB
Recessive nonsyndromic hearing loss and deafness (2 genes)
GJB2
,
GJB6
Non syndromic hearing loss and deafness (2 genes) - IPG - ULG
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - CHU Sart-Tilman
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