• Test Code:
    1287
  • Department:
    Molecular Genetics
  • Test Synonyms:
    HMGCRNPC1L1
  • CPT Code(s):
    81479
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 will analyze the exons or coding regions of the 2 dyslipidemia associated genes using Illumina NextSeq 500/550 technology. Samples are prepared using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function.

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

Saliva: 2 ORAgene™ Saliva Collection Kits (OGR-500) used according to manufacturer instructions.  Please contact KDL Client Services for a Saliva Collection Kit for patients that cannot provide a blood sample.

Assisted Saliva:
4 ORAgene™ Assisted Saliva Collection Kits (OGR-575) used according to manufacturer instructions.  Please contact KDL Client Services for an Assisted Saliva Collection Kit for patients that cannot provide a blood sample.

Skin Fibroblast:
Punch Biopsy (Cell cultures will be prepared at KDL and used for testing), or 2 T-25 confluent flasks

DNA:
1-2ug at 50-100 ng/uL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood and saliva (or DNA extracted from them), KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

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: