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Analytes
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Disease
Laboratory
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
Achromatopsia
CNGB3
,
CNGA3
Achromatopsia (2 genes) - UGent
Achromatopsia
Centrum Medische Genetica - UZ Gent
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Menselijke Erfelijkheid - KUL
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centre de Génétique Humaine - CHU Sart-Tilman
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
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