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Analytes
Gene panels
Disease
Laboratory
Adenomatous polyposis, familial (gene panel)
APC
,
MUTYH
,
BMPR1A
,
EPCAM
,
GREM1
,
MLH1
,
MSH2
,
MSH3
,
MSH6
,
NTHL1
,
PMS2
,
POLD1
,
POLE
,
PTEN
,
STK11
,
CDH1
,
SMAD4
,
TP53
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
Centre de Génétique Médicale UCL
Breast and Ovarian Cancer, HBOC, Familial (17 genes)
BRCA1
,
BRCA2
,
TP53
,
PALB2
,
CHEK2
,
ATM
,
BRIP1
,
RAD51C
,
RAD51D
,
MLH1
,
MSH2
,
MSH6
,
BARD1
,
CDH1
,
EPCAM
,
PMS2
,
PTEN
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique Médicale UCL
Hereditary nonpolyposis colorectal cancer (gene panel)
MLH1
,
MSH2
,
MSH6
,
PMS2
,
EPCAM
,
APC
,
BMPR1A
,
CDH1
,
GREM1
,
MSH3
,
MUTYH
,
NTHL1
,
POLD1
,
POLE
,
PTEN
,
STK11
,
SMAD4
,
TP53
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
,
Constitutional mismatch repair deficiency syndrome
Centre de Génétique Médicale UCL
Diffuse gastric cancer, hereditary
CDH1
,
CTNNA1
Hereditary diffuse gastric cancer
Centrum Medische Genetica - UZ Gent
Hereditary cancer (Breast, ovary, colon) (26 genes)
BRCA1
,
BRCA2
,
BARD1
,
BRIP1
,
CDH1
,
MLH1
,
MSH2
,
MSH6
,
MEN1
,
PTEN
,
RAD50
,
RAD51D
,
STK11
,
TP53
,
CHEK2
,
MUTYH
,
PALB2
,
RAD51C
,
ATM
,
EPCAM
,
BLM
,
NBN
,
PMS2
,
XRCC2
,
ABRAXAS1
,
MRE11
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Diffuse gastric cancer (CDH1 gene)
CDH1
Hereditary diffuse gastric cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Cholestasis, intrahepatic (2 genes among ATP8B1, ABCB11, ABCB4)
ATP8B1
,
ABCB11
,
ABCB4
Progressive familial intrahepatic cholestasis type 1
,
Progressive familial intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Intrahepatic cholestasis of pregnancy
Centre de Génétique Humaine - CHU Sart-Tilman
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
Cholestasis, progressive familial intrahepatic (gene panel)
ABCB11
,
ABCB4
,
ATP8B1
,
NR1H4
,
TJP2
Cholestasis, progressive familial intrahepatic (5 genes) - UCL
Progressive familial intrahepatic cholestasis type 1
,
Progressive familial intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Progressive familial intrahepatic cholestasis type 4
,
Progressive familial intrahepatic cholestasis type 5
,
Benign recurrent intrahepatic cholestasis type 1
,
Benign recurrent intrahepatic cholestasis type 2
Centre de Génétique Médicale UCL
Cholestasis, intrahepatic (1 gene among ATP8B1, ABCB11,ABCB4)
ATP8B1
,
ABCB11
,
ABCB4
Progressive familial intrahepatic cholestasis type 1
,
Progressive familial intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Intrahepatic cholestasis of pregnancy
Centre de Génétique Humaine - CHU Sart-Tilman
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Menselijke Erfelijkheid - KUL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique Médicale UCL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Medische Genetica - UZ Gent
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Medische Genetica - UZ Antwerpen
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique Humaine - Erasme ULB
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (SMN1 & SMN2 genes)
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Medische Genetica - UZ Brussel VUB
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique Humaine - CHU Sart-Tilman
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (Full sequencing)
SMN1
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centre de Génétique Humaine - CHU Sart-Tilman
Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - UCL
Hereditary chronic pancreatitis
Centre de Génétique Médicale UCL
Pagination
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