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Analytes
Gene panels
Disease
Laboratory
Familial Exudative Vitreoretinopathy, autosomal dominant
FZD4
,
TSPAN12
,
LRP5
,
NDP
Exudative Vitreoretinopathy - UGent
Familial exudative vitreoretinopathy
Centrum Medische Genetica - UZ Gent
Norrie disease (NDP gene)
NDP
Norrie disease
Centrum Medische Genetica - UZ Brussel VUB
Vitelliform Macular Dystrophy
BEST1
,
PRPH2
,
IMPG1
,
IMPG2
Best vitelliform macular dystrophy
,
Adult-onset foveomacular vitelliform dystrophy
Centrum Medische Genetica - UZ Gent
Crigler Najjar Syndrome
UGT1A1
Crigler-Najjar syndrome type 1
,
Crigler-Najjar syndrome type 2
Centre de Génétique Médicale UCL
Gilbert disease - UGT1A1*28,*36,*37 {A(TA)nTAA} + *6 genotyping - Pharmacogenetics
UGT1A1
Transient familial neonatal hyperbilirubinemia
,
Irinotecan toxicity
,
Raltegravir toxicity
Centre de Génétique Médicale UCL
Gilbert syndrome (homozygous A(TA)7TAA allele)
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - Erasme ULB
Gilbert disease / Irinotecan sensitivity / Raltegravir toxicity - Pharmacogenetics
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele)
UGT1A1
Gilbert syndrome (NON RARE IN EUROPE)
,
Irinotecan toxicity
,
Transient familial neonatal hyperbilirubinemia
Centrum Menselijke Erfelijkheid - KUL
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
Perrault syndrome (gene panel)
TWNK
,
CLPP
,
HARS2
,
HSD17B4
,
LARS2
Perrault syndrome (5 genes) - UZA
Perrault syndrome
Centrum Medische Genetica - UZ Antwerpen
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