• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The CYP7B1 gene is associated with autosomal recessive hereditary spastic paraplegia type 5A (SPG5A) (MedGen UID: 376521). Additionally, the CYP7B1 has preliminary evidence supporting a correlation with autosomal recessive congenital bile acid synthesis defect type 3 (CBAS3) (MedGenUID: 462497).

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Invitae tests that include this gene:

An estimated 6%-7% of autosomal recessive HSP is caused by pathogenic variants identified in CYP7B1.

The CYP7B1 gene encodes a member of the cytochrome P450 superfamily of enzymes, which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is thought to plays a role in bile acid synthesis, neurosteroid metabolism, the development of atherosclerosis and sex hormone synthesis.

Assay and technical information

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
CYP7B1 NM_004820.3