Cholestasis panel
GTR Test Accession: Help GTR000569070.1
Last updated in GTR: 2019-10-09
Last annual review date for the lab: 2023-07-05 LinkOut
At a Glance
Benign recurrent intrahepatic cholestasis type 1; Alagille syndrome due to a NOTCH2 point mutation; Alpha-1-antitrypsin deficiency; ...
ABCB11 (2q31.1), ABCB4 (7q21.12), ABCC2 (10q24.2), AKR1D1 (7q33), ATP8B1 (18q21.31), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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Ordering Information
Offered by: Help
Al Jalila Children's Genomics Center
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View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
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
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 23
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 23
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Variant Interpretation:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Recommended fields not provided:
Technical Information
Test Confirmation: Help
For variants classified as uncertain or higher, confirmation is performed by Sanger sequencing.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity - 99.5% Specificity - 99.99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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