• Test Code:
    1645
  • Department:
    Molecular Genetics
  • Test Synonyms:
    TriglicerideAPOA5APOC2GPIHBP1LMF1LPL
  • CPT Code(s):
    81479x5
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: