HAD panel 2
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000522073.1
INHERITED DISEASEDYSMORPHOLOGYCARDIOVASCULAR ... View more
Last updated in GTR: 2015-03-31
Last annual review date for the lab: 2024-01-16 LinkOut
At a Glance
Diagnosis
Aortic aneurysm, familial thoracic 7; Aortic aneurysm, familial thoracic 8; Aortic valve disease 1; ...
Genes (9): Help
ADAMTS10 (19p13.2), EFEMP2 (11q13.1), ELN (7q11.23), FBN2 (5q23.3), FLNA (Xq28), ...
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: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 9
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
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
Diagnosis
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
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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