Metabolic diseases with hepatic disorders (20 genes)

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Full name:	Metabolic diseases with hepatic disorders (20 genes)
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Carrier diagnosis, Post-natal Diagnosis, Prenatal diagnosis
Specimen:	Peripheral (whole) blood on EDTA, Amniotic fluid, Chorionic villi
Method category:	Sequence analysis: entire coding region Deletion/duplication analysis
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centre de Génétique Médicale UCL
RIZIV code:	565493-565504
Accreditation (ISO 15189):	2022-12-22 / 2027-12-21
Turnaround time (maximum):	3 months
Created:	06 Nov 2019 - 14:22
Changed:	25 Jan 2023 - 08:38

Related Diseases

• Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
• CPT deficiency, hepatic, type IA
• Carnitine palmitoyl transferase 1A deficiency
• Cerebrotendinous xanthomatosis
• Cerebrotendinous xanthomatosis
• Cholesteryl ester storage disease
• Chronic visceral acid sphingomyelinase deficiency
• Citrullinemia type II
• Congenital sialidosis type 2
• Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
• Glycogen storage disease IV
• Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
• Infantile neurovisceral acid sphingomyelinase deficiency
• Juvenile sialidosis type 2
• McCune-Albright syndrome
• Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
• Mucopolysaccharidosis type 7
• NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
• Neonatal intrahepatic cholestasis due to citrin deficiency
• Niemann-Pick disease type C, adult neurologic onset
• Niemann-Pick disease type C, juvenile neurologic onset
• Niemann-Pick disease type C, late infantile neurologic onset
• Niemann-Pick disease type C, severe early infantile neurologic onset
• Niemann-Pick disease type C, severe perinatal form
• Primary Fanconi renotubular syndrome
• Sialidosis type 1
• Smith-Lemli-Opitz syndrome
• Transaldolase deficiency
• Wilson disease
• Wolman disease

Related Laboratories

• Centre de Génétique Médicale UCL

Related Analytes

• ATP7B
• CPT1A
• CYP27A1
• DGUOK
• DHCR7
• EHHADH
• GBE1
• GNAS
• GUSB
• LIPA
• MPV17
• NEU1
• NPC1
• NPC2
• POLG
• SI
• SLC25A13
• SMPD1
• TALDO1
• TRMU

Related Gene Panels

• Metabolic diseases with hepatic disorders (20 genes) - UCL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ATP7B	100.00	1	Part of Custom Gastro-pneumo panel
  CPT1A	100.00	1	Part of Custom Gastro-pneumo panel
  CYP27A1	100.00	1	Part of Custom Gastro-pneumo panel
  DGUOK	100.00	1	Part of Custom Gastro-pneumo panel
  DHCR7	100.00	1	Part of Custom Gastro-pneumo panel
  EHHADH	100.00	1	Part of Custom Gastro-pneumo panel
  GBE1	100.00	1	Part of Custom Gastro-pneumo panel
  GNAS	0.00	1	Part of Custom Gastro-pneumo panel / only Exons 8 and 9
  GUSB	100.00	1	Part of Custom Gastro-pneumo panel
  LIPA	100.00	1	Part of Custom Gastro-pneumo panel
  MPV17	100.00	1	Part of Custom Gastro-pneumo panel
  NEU1	100.00	1	Part of Custom Gastro-pneumo panel
  NPC1	100.00	1	Part of Custom Gastro-pneumo panel
  NPC2	100.00	1	Part of Custom Gastro-pneumo panel
  POLG	100.00	1	Part of Custom Gastro-pneumo panel
  SI	100.00	1	Part of Custom Gastro-pneumo panel
  SLC25A13	100.00	1	Part of Custom Gastro-pneumo panel
  SMPD1	100.00	1	Part of Custom Gastro-pneumo panel
  TALDO1	100.00	1	Part of Custom Gastro-pneumo panel
  TRMU	100.00	1	Part of Custom Gastro-pneumo panel