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Analytes
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Disease
Laboratory
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)
ASPA
Mild Canavan disease
,
Severe Canavan disease
Centrum Medische Genetica - UZ Antwerpen
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
TYMP
,
POLG
,
POLG2
,
RRM2B
MNGIE syndrome (4 genes) - VUB
Mitochondrial neurogastrointestinal encephalomyopathy
Centrum Medische Genetica - UZ Brussel VUB
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Melanoma (6 genes)
BAP1
,
CDK4
,
CDKN2A
,
MC1R
,
MITF
,
POT1
Melanoma (6 genes) - UCL
Familial melanoma
,
MITF-related melanoma and renal cell carcinoma predisposition syndrome
,
Uveal melanoma
,
Melanoma of soft tissue
Centre de Génétique Médicale UCL
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
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
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