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Disease
Laboratory
Primary Electrical disorders / Brugada syndrome / Long QT syndrome (LQT) / Short QT syndrome (SQT) / Arrhythmogenic right ventricular cardiomyopathy (ARVC) / Catecholaminergic polymorphic ventricular tachycardia (CPVT) (gene panel)
ABCB4
,
ABCC9
,
ACTN2
,
AKAP9
,
ANK2
,
CACNA1C
,
CACNB2
,
CALM1
,
CALM2
,
CALM3
,
CASQ2
,
CAV3
,
CTNNA3
,
DES
,
DPP6
,
DSC2
,
DSG2
,
DSP
,
GJA1
,
GJA5
,
GPD1L
,
HCN4
,
JUP
,
KCNA5
,
KCND3
,
KCNE1
,
KCNE2
,
KCNE3
,
KCNE5
,
KCNH2
,
KCNJ2
,
KCNJ5
,
KCNJ8
,
KCNQ1
,
LMNA
,
NKX2-5
,
NOS1AP
,
NPPA
,
PKP2
,
PLN
,
PRKAG2
,
RANGRF
,
RYR2
,
SCN1B
,
SCN2B
,
SCN3B
,
SCN4B
,
SCN5A
,
SCN10A
,
SLMAP
,
SNTA1
,
TGFB3
,
TMEM43
,
TRDN
,
TRPM4
,
CACNA2D1
,
KCNK17
,
RRAD
,
PPA2
,
GNB5
Primary Electrical disorders/Brugada syndrome (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 2 to type 5 (5 genes)
HAMP
,
FTH1
,
SLC40A1
,
TFR2
,
HJV
Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
HJV or HAMP-related hemochromatosis
,
TFR2-related hemochromatosis
,
Hemochromatosis type 4
,
Hemochromatosis type 5
Centre de Génétique Médicale UCL
Cholestasis (gene panel)
ABCB11
,
ABCB4
,
AKR1D1
,
AMACR
,
ATP8B1
,
BAAT
,
BCS1L
,
CC2D2A
,
CLDN1
,
CYP27A1
,
CYP7B1
,
DCDC2
,
DGUOK
,
HNF1B
,
HSD3B7
,
INVS
,
JAG1
,
MKS1
,
MPV17
,
NOTCH2
,
NPC1
,
NPC2
,
NPHP1
,
NPHP3
,
NPHP4
,
NR1H4
,
PKHD1
,
PNPLA3
,
POLG
,
SLC25A13
,
SMPD1
,
TJP2
,
TALDO1
,
TMC4
,
TMEM216
,
TM6SF2
,
TRMU
,
UGT1A1
,
VIPAS39
,
VPS33B
Cholestasis (40 genes) - UCL
Progressive familial intrahepatic cholestasis type 2
,
Benign recurrent intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Intrahepatic cholestasis of pregnancy
,
Congenital bile acid synthesis defect type 2
,
Congenital bile acid synthesis defect type 4
,
Progressive familial intrahepatic cholestasis type 1
,
Familial hypercholanemia
,
GRACILE syndrome
,
Isolated complex III deficiency
,
Meckel syndrome
,
Joubert syndrome
,
Congenital bile acid synthesis defect type 3
,
Isolated neonatal sclerosing cholangitis
,
Neonatal ichthyosis-sclerosing cholangitis syndrome
,
Infantile nephronophthisis
,
HNF1B-related autosomal dominant tubulointerstitial kidney disease
,
Congenital bile acid synthesis defect type 1
,
Alagille syndrome due to a JAG1 point mutation
,
Bardet-Biedl syndrome
,
Alagille syndrome due to a NOTCH2 point mutation
,
Niemann-Pick disease type C, severe perinatal form
,
Niemann-Pick disease type C, late infantile neurologic onset
,
Niemann-Pick disease type C, severe early infantile neurologic onset
,
Niemann-Pick disease type C, adult neurologic onset
,
Niemann-Pick disease type C, juvenile neurologic onset
,
Senior-Loken syndrome
,
Renal-hepatic-pancreatic dysplasia
,
Progressive familial intrahepatic cholestasis type 5
,
Autosomal recessive polycystic kidney disease
,
Caroli disease
,
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
,
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
,
Citrullinemia type II
,
Chronic visceral acid sphingomyelinase deficiency
,
Infantile neurovisceral acid sphingomyelinase deficiency
,
Progressive familial intrahepatic cholestasis type 4
,
Transaldolase deficiency
,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
,
Crigler-Najjar syndrome type 1
,
Crigler-Najjar syndrome type 2
,
Arthrogryposis, renal dysfunction, and cholestasis
,
Cerebrotendinous xanthomatosis
Centre de Génétique Médicale UCL
Hepatorenal disorders (gene panel)
BCS1L
,
CC2D2A
,
DCDC2
,
EHHADH
,
HNF1B
,
INVS
,
MKS1
,
NPHP1
,
NPHP3
,
NPHP4
,
PKHD1
,
POLG
,
TMEM216
Hepatorenal disorders (13 genes) - UCL
GRACILE syndrome
,
Mitochondrial DNA-associated Leigh syndrome
,
Isolated complex III deficiency
,
Joubert syndrome
,
Meckel syndrome
,
Isolated neonatal sclerosing cholangitis
,
Primary Fanconi renotubular syndrome
,
HNF1B-related autosomal dominant tubulointerstitial kidney disease
,
Infantile nephronophthisis
,
Bardet-Biedl syndrome
,
Senior-Loken syndrome
,
Autosomal recessive polycystic kidney disease
Centre de Génétique Médicale UCL
Emberger syndrome / Immunodeficiency 21
GATA2
Deafness-lymphedema-leukemia syndrome
,
Monocytopenia with susceptibility to infections
Centrum Menselijke Erfelijkheid - KUL
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