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
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
Metabolic diseases with hepatic disorders (20 genes)
ATP7B
,
CPT1A
,
CYP27A1
,
DGUOK
,
DHCR7
,
EHHADH
,
GBE1
,
GNAS
,
GUSB
,
LIPA
,
MPV17
,
NEU1
,
NPC1
,
NPC2
,
POLG
,
SI
,
SLC25A13
,
SMPD1
,
TALDO1
,
TRMU
Metabolic diseases with hepatic disorders (20 genes) - UCL
Wilson disease
,
CPT deficiency, hepatic, type IA
,
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
,
Smith-Lemli-Opitz syndrome
,
Primary Fanconi renotubular syndrome
,
Glycogen storage disease IV
,
McCune-Albright syndrome
,
Mucopolysaccharidosis type 7
,
Wolman disease
,
Cholesteryl ester storage disease
,
Sialidosis type 1
,
Juvenile sialidosis type 2
,
Congenital sialidosis type 2
,
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
,
Chronic visceral acid sphingomyelinase deficiency
,
Infantile neurovisceral acid sphingomyelinase deficiency
,
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
,
Citrullinemia type II
,
Transaldolase deficiency
,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
,
Cerebrotendinous xanthomatosis
Centre de Génétique Médicale UCL
Hypercholesterolemia (9 genes)
LDLR
,
APOB
,
PCSK9
,
ABCG5
,
ABCG8
,
APOE
,
LDLRAP1
,
LIPA
,
STAP1
Hypercholesterolemia (9 genes) - UCL
Homozygous familial hypercholesterolemia
Centre de Génétique Médicale UCL
Hypercholesterolemia, Familial (Gene Panel)
LDLR
,
APOB
,
APOE
,
PCSK9
,
LDLRAP1
Familial Hypercholesterolemia (9 genes) - IPG
Homozygous familial hypercholesterolemia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypercholesterolemia, Familial (gene panel)
Familial Hypercholesterolemia panel (8 genes) - UZA
Homozygous familial hypercholesterolemia
Centrum Medische Genetica - UZ Antwerpen
Hypercholesterolemia, Familial (9 genes)
LDLR
,
APOB
,
APOE
,
PCSK9
,
ABCG5
,
ABCG8
,
LDLRAP1
,
LIPA
,
STAP1
Familial Hypercholesterolemia panel (9 genes) - ULG
Homozygous familial hypercholesterolemia
,
Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE)
,
Sitosterolemia
,
Cholesteryl ester storage disease
Centre de Génétique Humaine - CHU Sart-Tilman
Hypercholesterolemia, Familial (4 genes)
LDLR
,
APOB
,
APOE
,
PCSK9
Familial Hypercholesterolemia panel (4 genes) - KUL
Homozygous familial hypercholesterolemia
Centrum Menselijke Erfelijkheid - KUL
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
Hemolytic uremic syndrome with DGKE deficiency
,
Atypical hemolytic uremic syndrome with anti-factor H antibodies
,
Atypical hemolytic uremic syndrome with complement gene abnormality
,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
,
Atypical hemolytic-uremic syndrome with B factor anomaly
,
Atypical hemolytic-uremic syndrome with H factor anomaly
,
Atypical hemolytic-uremic syndrome with C3 anomaly
,
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
,
Atypical hemolytic-uremic syndrome with I factor anomaly
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis, cardiac (full screening of the 4 exons for TTR)
TTR
Hereditary ATTR amyloidosis
Centrum Medische Genetica - UZ Antwerpen
TRANSTHYRETIN (TTR) Analysis
TTR
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (TTR full sanger exon sequencing)
TTR
Hereditary ATTR amyloidosis
,
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia
TTR
ATTRV30M amyloidosis
,
ATTRV122I amyloidosis
,
Hereditary ATTR amyloidosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Download XLSX
Download PDF
Did not find what you were looking for? Contact us through the support center.
Read more