Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies
Use
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 48 genes associated with Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, heritable thoracic aortic disease, and related conditions with overlapping clinical presentation. It assists in the diagnosis, prognosis, clinical management, familial screening, and genetic counseling for these connective tissue disorders and hereditary aortopathies. By identifying disease-causing variants, this panel supports the differentiation of genetic etiologies of complex or ambiguous clinical presentations and aids in treatment decisions.
Special Instructions
Prior authorization is available but not required. The optimal specimen is whole blood, with specific container and handling instructions provided. It is important to document informed consent for genetic testing, especially for New York clients. Customization of this panel and single gene analysis for genes part of this panel are available.
Limitations
Next-generation sequencing may not detect all genomic variants. False negatives/positives may occur, and some regions may not be effectively evaluated due to assay limitations like homology and repetitive sequences. The test detects 95% of deletions up to 75 bp and insertions up to 47 bp. It does not detect low-level mosaicism, differentiate between somatic and germline variants, or detect balanced rearrangements. Alternative methods may be necessary for inconclusive results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0
- 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.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient preferred |
| Refrigerated | Refrigerated acceptable |