Skip to main content
Log in
Sciensano
Support
Belgian Genetic Tests database
Toggle navigation
Main navigation
Home
Genetic tests
Analytes
Diseases
Labs
Guide
Contact
Genetic tests
20
50
100
Search
Full name
Analytes
Gene panels
Disease
Laboratory
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
MT-TL1
MELAS
Centrum Medische Genetica - UZ Antwerpen
Maternally inherited deafness
MT-TS1
Rare mitochondrial non-syndromic sensorineural deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid
MT-TE
Maternally-inherited diabetes and deafness
,
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Gent
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / ISS
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
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
Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Autosomal recessive polycystic kidney disease
,
Autosomal dominant polycystic kidney disease
,
Isolated polycystic liver disease
,
Infantile nephronophthisis
,
Juvenile nephronophthisis
,
Late-onset nephronophthisis
,
Bardet-Biedl syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Did not find what you were looking for? Contact us through the support center.
Read more