• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    HMGCR • NPC1L1
  • 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. Clinical indications for dyslipidemia are low HDL cholesterol and elevated triglycerides and LDL cholesterol measured in serum. These conditions can lead to issues including coronary artery disease, stroke and peripheral artery disorders.   This next-generation sequencing test is designed to detect mutations in the coding regions within two genes associated with dyslipidemia.

Reasons for Referral:

  • Abnormal levels of HDL, LDL, or triglycerides.
  • 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.


Dyslipidemia Panel (2 genes): 
HMGCR, NPC1L1

Methodology:

Specimen Requirements:

Test Performed (Days):

Turn Around Time:

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References:

  1. Merck Manual http://www.merckmanuals.com/professional/endocrine-and-metabolic-disorders/lipid-disorders/dyslipidemia
  2. Nora L. Nock and Aiswarya L.P. Chandran Pillai (2012). Dyslipidemia: Genetics and Role in the Metabolic Syndrome
  3. Dyslipidemia - From Prevention to Treatment, Prof. Roya Kelishadi (Ed.), ISBN: 978-953-307-904-2, InTech

Additional Info:

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