Background:
Lipid disorders comprise a group of heterogenic conditions often with overlapping clinical features such as abnormal levels of HDL, LDL, or triglycerides. Hypertriglyceridemias are conditions which blood triglyceride concentrations are elevated. This next-generation sequencing test is designed to detect mutations in the coding regions of 5 genes associated with hypertriglyceridemias.
Reasons for Referral:
- Abnormal levels of triglycerides.
- Clinical presentation consistent with a lipid disorder.
- Positive family history of Hypertriglyceridemia (targeted testing is available if familial mutation is known).
- Carrier testing.
Methodology:
Next generation sequencing using Illumina NextSeq 500 technology of the 5 hypertriglyceridemia-associated genes listed below:
Hypertriglyceridemias Panel (5 genes): APOA5, APOC2, GPIHBP1, LMF1, LPL
Specimen Requirements:
Blood: EDTA or ACD (Solution A or B):
- Adult: 5 mL
- Child: 5 mL
- Infant: 2-3 mL
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.
Test Performed (Days):
Weekly
Turn Around Time:
8 weeks
Shipment Sensitivity Requirements:
- Package and ship specimen to remain cold, but not frozen.
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services for shipping kits and instructions at (855) 535-1522.
References:
Additional Info: