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Lipid disorders comprise a group of heterogenic conditions often with overlapping clinical features such as abnormal levels of HDL, LDL, or triglycerides. Hypolipidemia is characterized by low levels of total, LDL and HDL cholesterol measured in serum. These may cause complications that include hyperthyroidism, recurrent infections and absorption of fat soluble vitamins. Specific conditions also include autosomal recessive abetalipoproteinemia and autosomal dominant hypobetalipoproteinemia, as well as hypocholesterolemia. This next-generation sequencing test is designed to detect mutations in the coding regions for 4 genes associated to hypolipidemia and hypocholesterolemia.

Reasons for Referral:

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


Next generation sequencing using Illumina NextSeq 500 technology of the 4 hypolipidemia/ hypocholesterolemia genes listed below:

Hypolipidemia and Hypocholesterolemia Panel (4 genes): ANGPTL3, APOB, MTTP, PCSK9

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):


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.


Additional Info:

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