Ordering
  • 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
Billing
 

NR5A1

Alias

AD4BP; ELP; FTZ1; FTZF1; POF7; SF-1; SF1; SPGF8; SRXY3; hSF-1

Associated disorders

The NR5A1 gene is associated with autosomal dominant disorders of sex development (MedGen UID: 414114), spermatogenic failure (MedGen UID: 140793), and premature ovarian failure (MedGen UID: 38820).

Order single gene

NR5A1

Order this gene as a single gene test.


Order a test

Invitae tests that include this gene:

The NR5A1 gene encodes steroidogenic factor 1 (SF-1), a nuclear receptor / transcription factor that regulates genes involved in the development of the gonads and adrenal glands (PMID: 26303087).

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
NR5A1 NM_004959.4