Super Panel 113
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000570013.2
Last updated in GTR: 2022-07-13
Last annual review date for the lab: 2023-07-13 LinkOut
At a Glance
Cystic fibrosis; 3-Methylglutaconic aciduria type 3; Abetalipoproteinaemia; ...
ABCC8 (11p15.1), ACADM (1p31.1), ACADS (12q24.31), ACADVL (17p13.1), ADAMTS2 (5q35.3), ...
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Informed consent required: Help
Decline to answer
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: 113
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 115
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 4
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Retrospective analysis of 30,000 samples shows the designed coverage, which includes coding regions, canonical splice sites, and known intronic pathogenic variants is achieved with ≥20 read depth in the ABCC8, ACADM, ACADS, ACADVL, ADAMTS2, AGA, AGL, AGXT, AIRE, ALDH3A2, ALDOB, ALPL, ARSA, ASPA, ASS1, ATM, ATP7B, BBS1, BBS10, BCKDHA, BCKDHB, … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
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.