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ATP8B1 mutation analysis
Clinical Genetic Test
Help
offered by
Hehr Laboratory
GTR Test Accession: Help GTR000320427.1
INHERITED DISEASEDIGESTIVE SYSTEMENDOCRINOLOGY ... View more
Registered in GTR: 2013-01-21
View version history
Last annual review date for the lab: 2021-11-15 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (2): Help
Progressive familial intrahepatic cholestasis type 1; Benign recurrent intrahepatic cholestasis type 1
Genes (1): Help
ATP8B1 (18q21.31)
Methods (2): Help
Molecular Genetics - Linkage analysis: f-PCR closely linked microsatellite markers; ...
Target population: Help
progressive intrahepatic cholestasis with low Gamma-GT
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Hehr Laboratory
View lab's website
Test short name: Help
ATP8B1
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Cell-free DNA
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Isolated DNA
  • Peripheral (whole) blood
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Please send EDTA blood or genomic DNA at room temperature with suitable mail or transportation service, preferentially at the beginning of the week. Please specify request, include contact address and phone number of refering physician, confirmation of informed consent and payment, and for shipments from outside the European Union custom …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Test strategy: Help
For index cases sequence analysis entire coding region and flanking splice sites For suitable families (2 or more affected siblings and/or consanguineous parents) linkage analysis may be performed for all 3 loci (PFIC1, 2 and 3) in order to identify candidate locus For carrier or prenatal testing please include mutation … View more
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, Lab contact for this test
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Linkage analysis
f-PCR closely linked microsatellite markers
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
Applied Biosystems 3500xL Genetic Analyzer
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Target population: Help
progressive intrahepatic cholestasis with low Gamma-GT
View citations (1)
  • Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. van der Woerd WL, et al. Best Pract Res Clin Gastroenterol. 2010;24(5):541-53. doi:10.1016/j.bpg.2010.07.010. PMID: 20955958.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Research:
Is research allowed on the sample after clinical testing is complete? Help
yes, standardized questionnaire to assess clinical findings and course, response to therapeutic approaches including liver transplantation and long-term outcome
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
independent confirmation with new PCR product from new DNA preparation or diluation of the provided DNA sample, preferentially by RFLP or sequencing in both directions
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sequencing sensitivity and specificity > 95%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.