• Test Code:
    1860
  • Department:
  • Test Synonyms:
    Tangier diseaseABCA1ABCG1APOA1LCATSCARB1
  • 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. Low levels of HDL cholesterol in blood have been shown to atherogenic. Mutations in ABCA1 have shown to be associated with Tangier disease, whose phenotype include elevated triglycerides, neuropathy and atherosclerosis. This next-generation sequencing tests the coding region for these genes associated with low HDL concentrations.

Reasons for Referral:

  • Abnormally low levels of HDL cholesterol.
  • Clinical presentation consistent with a lipid disorder.
  • Positive family history (targeted testing is available if familial mutation is known).
  • Carrier testing

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the 5 genes associated with low HDL listed below:

Low HDL Panel (5 genes): ABCA1, ABCG1, APOA1, LCAT, SCARB1

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:

References:

  1. Genetics Home Reference https://ghr.nlm.nih.gov/condition/tangier-disease

Additional Info:

  • 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.

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