HAD panel 1
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000522037.1
Last updated in GTR: 2015-03-31
Last annual review date for the lab: 2024-01-16 LinkOut
At a Glance
Marfan syndrome; Aneurysm-osteoarthritis syndrome; Aortic aneurysm, familial thoracic 4; ...
ACTA2 (10q23.31), COL3A1 (2q32.2), FBN1 (15q21.1), MYH11 (16p13.11), SKI (1p36.33-36.32), ...
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
Connective Tissue Laboratory
View lab's website
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
Conditions Help
Total conditions: 15
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
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
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of the Illumina's Sequencing By Synthesis (SBS) technology (MiSeq Personal Sequencer, Illumina) is >99,9%. Deletions and insertions >15 bp cannot be detected with this technology with the same sensitivity.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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.