Familial Hypercholesterolemia NGS panel

Familial hypercholesterolemia (FH) is a cardiovascular disorder characterized by abnormally high levels of low-density lipoprotein (LDL) cholesterol in the blood. This condition affects about 1 in 250 individuals and increases the likelihood of developing coronary artery disease at a young age. Other features of FH include the development of visible lipid deposits under the skin (xanthomas) and in the eyes (corneal arcus). Individuals with FH require cholesterol-lowering medications, in addition to diet and lifestyle management, to control their cholesterol levels. FH is caused by pathogenic variants in the APOB, LDLR, PCSK9, and LDLRAP1 genes. Pathogenic variants in APOB, LDLR, and PCSK9 cause autosomal dominant FH; however, biallelic LDLR pathogenic variants may be seen in individuals with severe, early onset disease. Pathogenic variants in LDLRAP1 cause a rare autosomal recessive type of hypercholesterolemia, in which individuals have LDL cholesterol levels of  greater than 400 mg/dL.
Gene Accession Disorder MIM Inheritance
APOB NM_000384.3 Hypercholesterolemia, familial, 2 144010 AD
LDLR NM_000527.4 Hypercholesterolemia, familial, 1 143890 AD, AR
LDLRAP1 NM_015627.3 Hypercholesterolemia, familial, 4 603813 AR
PCSK9 NM_174936.4 Hypercholesterolemia, familial, 3 603776 AD



Disease Group(s)

Cardiovascular disorders




81405x1, 81406x1, 81407x1, 81479x1


Test Code

Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)

Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl) Fibroblasts: 2 confluent T-25 flasks Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.