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Laboratory
Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome)
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial disorders, mitchondrial DNA based (Full sequencing of mtDNA genome)
mitochondrial disorders, mitochondrial DNA based / mtDNA resequencing - VUB
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
,
Autosomal dominant progressive external ophthalmoplegia
,
Autosomal recessive progressive external ophthalmoplegia
,
Isolated cytochrome C oxidase deficiency
,
Maternally-inherited diabetes and deafness
,
Kearns-Sayre syndrome
,
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
,
Mitochondrial DNA depletion syndrome, myopathic form
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
,
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
,
Proximal myopathy with focal depletion of mitochondria
,
Pearson syndrome
Centrum Medische Genetica - UZ Brussel VUB
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
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
Amyloidosis, cardiac (full screening of the 4 exons for TTR)
TTR
Hereditary ATTR amyloidosis
Centrum Medische Genetica - UZ Antwerpen
TRANSTHYRETIN (TTR) Analysis
TTR
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
,
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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