Number of Panel Genes4

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.
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
 
 

Gene(s)

APOB LDLR LDLRAP1 PCSK9

Disease Group

Cardiovascular disorders

MIM

144010 143890 603813 603776

Methodology

Billing

CPT Code(s)
81405x1, 81406x1, 81407x1, 81479x1

Ordering

Test Code
7000

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

Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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.

News

August 08, 2022

Familial hypercholesterolemia (FH)

Familial hypercholesterolemia (FH) is a genetic disorder that increases the likelihood of having coronary heart disease at a younger age. Learn about how to determine if you have hypercholesterolemia and what actions you can take to create better outcomes!

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Genome Sequencing: A Vital Tool Used in Identifying and Tracking New COVID-19 Variants

Genome sequencing is reading or decoding the complete genetic information i.e. “Genome” of an organism that is encrypted in the form of a very long string called DNA made up of 4 letters, A, T, G, and C. The genome of an organism essentially determines their physical characteristics and ...
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March 03, 2022

The Effect of Genetics on Individual Heart Health: Early Identification of FH Variations to Optimize Treatment

Test must be ordered by a Physician.

Familial hypercholesterolemia (FH) is a genetic disorder that is characterized by abnormally high blood levels of low-density lipoprotein (LDL) cholesterol, sometimes referred to as "bad cholesterol". This condition affects an estimated 1 in 250 people, and increases the likelihood of developing cardiovascular disease. In fact, FH is estimated to be the cause of 2-3% of heart attacks in individuals younger than age 60.

Read More
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CTGT.net: A New Website Experience

We've refreshed our look and feel to better meet your needs. 

CTGT's new website is not only user-friendly but also provides more advanced test search capabilities, additional methodologies, and a clean design suited for multi-platform usage.

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9 New Tests for Genetic Carrier Screening Panels

HNL Genomics (CTGT) is now offering 9 NEW tests for Genetic Carrier Screening. 
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