Liver Diseases Panel by next-generation sequencing (NGS)
GTR Test Accession: Help GTR000531741.5
Last updated in GTR: 2021-08-04
Last annual review date for the lab: 2023-07-31 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Progressive familial intrahepatic cholestasis type 3; Alagille syndrome due to a JAG1 point mutation; Alagille syndrome due to a NOTCH2 point mutation; ...
ABCB11 (2q31.1), ABCB4 (7q21.12), ABCC12 (16q12.1), ABCC2 (10q24.2), ABCD3 (1p21.3), ...
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
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory
View lab's website
View lab's test page
Lab contact: Help
Lab Administration, Administrator
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
Complete the appropriate test requisition and have it signed by the referring physician.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Decline to answer
Test strategy: Help
Single-gene testing of any gene on the panel is available. Deletion/duplication testing is also available as a reflex test for most of the genes on the panel.
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: 71
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 72
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Recommended fields not provided:
Technical Information
Test Comments: Help
Please see test requisition for information about reflex deletion/duplication analysis by array comparative genomic hybridization (aCGH).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The next generation sequencing panel detects 70-99% of the reported mutations in these genes using this testing methodology. Many genes on this panel result in rare or overlapping phenotypes, and the clinical sensitivity of gene sequencing has not been determined. The clinical sensitivity of single gene testing is dependent on … View more
Assay limitations: Help
Large exonic deletions, duplications, or insertions have been reported in several of these genes. Deletion/duplication analysis may be indicated as a follow-up test in patients with a single mutation in one of these genes, or in patients with normal Liver Panel analysis.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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