Familial Hypercholesterolemia NGS panel
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)
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
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.
