GeneSeq® Cardio: Familial Hypercholesterolemia Panel
Use
This test is used for diagnostic testing for familial hypercholesterolemia and presymptomatic testing for family members.
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases where a known variant is documented in the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208].
Limitations
Technologies used do not detect germline mosaicism or large chromosomal aberrations, including rearrangements and gene fusions, or variants in regions not covered by this test. Limitations also include possible changes over time in variant classification/interpretation, and the risk of false positives/negatives due to rare variants or sex chromosome abnormalities, among other reasons. This test was developed by Labcorp and is not FDA cleared or approved.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48018-6
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 48003-8
- 53039-4
- 8262-8
- 62385-0
- 55752-0
- 8251-1
- 49549-9
- 75608-0
- 72486-4
- 51969-4
- 48018-6
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 48003-8
- 53039-4
- 8262-8
- 62385-0
- 55752-0
- 8251-1
- 49549-9
- 75608-0
- 72486-4
- 51969-4
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.
Patient Preparation
Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
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 |