Postmortem Aortopathy Gene Panel, Tissue
Use
This test provides a comprehensive postmortem genetic evaluation for sudden death cases attributed to thoracic aortic dissection. It is also useful for individuals with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic aneurysm, and dissections or vascular Ehlers-Danlos syndrome. It identifies disease-causing variants that may assist with risk assessment and predictive testing of at-risk family members.
Special Instructions
This test is performed when whole blood is not available, and formalin-fixed, paraffin-embedded tissue is the only available specimen. Before completing the test, ensure informed consent is obtained for the testing of deceased individuals.
Limitations
NGS may not detect all genomic variants, with potential for false-negative or false-positive results. Areas high in guanine-cytosine content or with repetitive sequences may be challenging to evaluate. The test does not include deletion/duplication analysis and is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. Variants are evaluated and categorized based on their known, predicted, or possible pathogenicity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 106052-4
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block.
Causes for Rejection
All specimens are evaluated for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |