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Laboratory
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
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
BAP1-related tumor predisposition syndrome (TPDS)
BAP1
Familial melanoma
Centrum Menselijke Erfelijkheid - KUL
Hereditary Melanoma Panel (7 genes)
CDKN2A
,
CDK4
,
POT1
,
TERT
,
TERF2IP
,
BAP1
,
MITF
Hereditary Melanoma Panel (7 genes) - ULG
Familial melanoma
Centre de Génétique Humaine - CHU Sart-Tilman
Familial melanoma / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM (gene panel)
Familial melanoma - UGent
Familial melanoma
Centrum Medische Genetica - UZ Gent
Susceptibility to Cutaneous Malignant Melanoma
CDK4
Familial melanoma
Centre de Génétique Humaine - CHU Sart-Tilman
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
Primary cardiac arrhythmias (Atrial fibrillation / Brugada syndome / Catech. polymorphic ventricular tachycardia / Early repolaristion syndrome / Ideopathic ventricular fibrillation / Long QT syndrome / Sick sinus syndrome / Short QT syndrome) (gene pane)
AKAP9
,
ANK2
,
CACNA1C
,
CACNA2D1
,
CACNB2
,
CAV3
,
GPD1L
,
HCN4
,
KCNE1
,
KCNE2
,
KCNE3
,
KCNE5
,
KCNH2
,
KCNJ2
,
KCNJ8
,
KCNQ1
,
RANGRF
,
SCN10A
,
SCN1B
,
SCN2B
,
SCN3B
,
SCN4B
,
SCN5A
,
SLMAP
,
SNTA1
,
TRPM4
,
KCND3
,
KCNJ5
Primary cardiac arrhythmias (113 genes) - VUB
Andersen-Tawil syndrome
,
Brugada syndrome
,
Catecholaminergic polymorphic ventricular tachycardia
,
Early repolarization syndrome
,
Familial atrial fibrillation
,
Familial short QT syndrome
,
Familial sick sinus syndrome
,
Familial long QT syndrome
,
Idiopathic ventricular fibrillation, non Brugada type
,
Jervell and Lange-Nielsen syndrome
Centrum Medische Genetica - UZ Brussel VUB
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