Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies
Use
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions. Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, classic Ehlers-Danlos syndrome, and heritable thoracic aortic disease/aortopathy. The identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for these conditions.
Special Instructions
Specimen preferred to arrive within 96 hours of collection. Prior Authorization is available, but not required, for this test. Informed consent is required for New York clients; document on the request form or electronic order.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur in rare cases. Technical limitations include the inability to evaluate certain genomic regions effectively due to homology, high guanine-cytosine content, and repetitive sequences. Coverage depth variability may affect some target regions, and assay performance will be noted. This test detects 95% of deletions up to 75 base pairs and insertions up to 47 base pairs but may have reduced reliability for deletions-insertions of 40 or more base pairs. This test may not detect low levels of mosaicism, and detected variants that are somatic may require additional testing for clarification.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105198-6
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |
| Refrigerated | Refrigerated |