• Test Code:
    1287
  • Department:
  • Test Synonyms:
    HMGCRNPC1L1
  • CPT Code(s):
    81479X2
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.

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the 2 dyslipidemia associated genes listed below:

Dyslipidemia Panel (2 genes): HMGCR, NPC1L1

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:

  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:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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