GeneSeq® Cardio: Familial Aortopathy Panel
Also known as: Aortic dilation, Loeys-Dietz syndrome, Marfan syndrome, Thoracic aortic aneurysm and dissection, Vascular-type Ehlers-Danlos syndrome
Use
This test is used for diagnostic testing for aortopathy, including isolated thoracic aortic aneurysm and dissection, and aortopathies seen in multisystem syndromes, including Marfan syndrome, Loeys-Dietz syndrome and vascular-type Ehlers-Danlos syndromes. It is also used for presymptomatic testing for family members.
Special Instructions
Not provided.
Limitations
This test may not detect germline mosaicism or large chromosomal aberrations including rearrangements and gene fusions. It also may not identify variants in genes not included, or inter/intragenic interactions. Variant classification/interpretation may change with new information. Possible reasons for incorrect results include rare genetic variants, sex chromosome anomalies, pseudogene interference, blood transfusions, bone marrow transplants, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous family relationship representation. This test has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48018-6 - Gene studied ID
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 48003-8 - DNA seq var ID
- 53039-4 - Gene dis anl carrier interp-Imp
- 8262-8 - Service Cmnt 02-Imp
- 62385-0 - Recommendation Patient Doc-Imp
- 55752-0 - Clinical info
- 8251-1 - Service Cmnt-Imp
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 51969-4 - Gene analysis narr rpt Doc
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
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