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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessATP8B1 deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for ATP8B1 deficiency comprising altogether 13 curated genes according to the clinical signs

ID
AP9222
Number of genes
11 Accredited laboratory test
Examined sequence length
3,8 kb (Core-/Core-canditate-Genes)
29,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATP8B13756NM_005603.6AR
ABCB113966NM_003742.4AR
ABCB43840NM_000443.4AR
BAAT1257NM_001127610.2AR
DHCR71428NM_001360.3AR
EPHX11368NM_000120.4AR
MYO5B5547NM_001080467.3AR
SLC27A52073NM_012254.3AR
TJP23063NM_004817.4AR, digenisch
VIPAS391482NM_022067.4AR
VPS33B1854NM_018668.5AR

Informations about the disease

Synonyms
  • Alias: FIC1 deficiency
  • Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
  • Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS39 [VIPAR])
  • Benign recurrent intrahepatic cholestasis type 1 (ATP8B1)
  • Bile acid conjugation defect 1 (BAAT)
  • Cholestasis [panelapp amber] (USP53)
  • Cholestasis, benign recurrent intrahepatic (ATP8B1)
  • Cholestasis, benign recurrent intrahepatic, 2 (ABCB11)
  • Cholestasis, intrahepatic, of pregnancy, 1 (ATP8B1)
  • Cholestasis, intrahepatic, of pregnancy, 3 (ABCB4)
  • Cholestasis, progressive familial intrahepatic 1 (ATP8B1)
  • Cholestasis, progressive familial intrahepatic 2 (ABCB11)
  • Cholestasis, progressive familial intrahepatic 3 (ABCB4)
  • Cholestasis, progressive familial intrahepatic 4 (TJP2)
  • Cholestasis, progressive familial intrahepatic, 5 (NR1H4)
  • Familial hypercholanemia [genereviews] (EPHX1)
  • Familial hypercholanemia [genereviews] (SLV27A5)
  • Gallbladder disease 1 (ABCB4)
  • Hypercholanemia, familial (BAAT)
  • Hypercholanemia, familial 1 (TJP2)
  • Intrahepatic cholestasis of pregnancy (ABCB11, ABCB4, ATP8B1, NR1H4)
  • Microvillus inclusion disease (MYO5B)
  • Paediatric cholestatic liver disease [panelapp amber] (USP53)
  • Progressive familial intrahepatic cholestasis type 1 [FIC1 deficiency] (ATP8B1, MYO5B)
  • Smith-Lemli-Opitz syndrome (DHCR7)
Heredity, heredity patterns etc.
  • AR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined