FH; FHC; LDLCQ2
The LDLR gene is associated with autosomal dominant familial hypercholesterolemia (FH) (MedGen UID: 5688). Generally, the presence of two pathogenic variants is associated with a severe form of FH commonly referred to as homozygous FH (HoFH) (MedGen UID: 468437).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic LDLR variants are associated with 60%-80% of clinical cases of familial hypercholesterolemia.
The LDLR gene encodes the low-density lipoprotein receptor (LDLR), a cell-surface protein involved in the absorption of low-density lipoprotein cholesterol (LDL-C).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|