• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Tangier disease • ABCA1 • ABCG1 • APOA1 • LCAT • SCARB1
  • CPT Code(s):
    Contact KDL for billing information
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

For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

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

Methodology:

Specimen Requirements:

Test Performed (Days):

Turn Around Time:

Shipment Sensitivity Requirements:

References:

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

Additional Info:

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