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Analytes
Gene panels
Disease
Laboratory
Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel)
Leber Congenital Amaurosis - UGent
Leber congenital amaurosis
,
Cone rod dystrophy
,
Retinitis pigmentosa
,
Senior-Loken syndrome
,
Severe early-childhood-onset retinal dystrophy
Centrum Medische Genetica - UZ Gent
Glycogen storage disease type 0
GYS2
Glycogen storage disease due to hepatic glycogen synthase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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
Primary lymphedema / fetal hydrops (gene panel)
Lymphedema / fetal hydrops (27 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
,
Cardiofaciocutaneous syndrome
,
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
,
Noonan syndrome
,
Oculodentodigital dysplasia
,
Microcephaly-lymphedema-chorioretinopathy syndrome
,
Milroy disease
,
Lymphedema-distichiasis syndrome
,
Lymphedema-posterior choanal atresia syndrome
,
Hennekam syndrome
,
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
,
Lymphangioleiomyomatosis
Centre de Génétique Médicale UCL
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