NR5A1 Gene SPGF8 NGS Genetic Test
Short Name: NR5A1 SPGF8 NGS Test
Also known as: NR5A1 Gene Mutation Test, SF1 Gene Sequencing Test, Spermatogenic Failure 8 Genetic Test, NR5A1 NGS Panel, Steroidogenic Factor 1 Gene Test
NR5A1 Gene SPGF8 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Analysis, Copy Number Variation (CNV) Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the NR5A1 Gene SPGF8 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the NR5A1 gene that may be responsible for disorders of sex development (DSD), spermatogenic failure, primary ovarian insufficiency, and other reproductive abnormalities. Early detection through this test enables clinicians to provide accurate diagnoses, guide treatment strategies, facilitate genetic counseling for affected families, and support informed reproductive decision-making.
- Test Code
- 5558
- CPT Code
- 81405
- ICD Code
- Q56.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Analysis, Copy Number Variation (CNV) Analysis
Sample Collection
No special preparation such as fasting is required. A genetic counseling session is recommended prior to sample collection to document clinical history and draw a pedigree chart of affected family members. Inform the laboratory of any recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer. Alternatively, a drop of blood can be spotted on an FTA card. The procedure typically takes less than 5 minutes and involves minimal discomfort.
Report Delivery
The sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India laboratory under controlled conditions. Avoid freezing the sample. Results will be available within 3 to 4 weeks via the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the NR5A1 Gene SPGF8 NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the NR5A1 gene that may be responsible for disorders of sex development (DSD), spermatogenic failure, primary ovarian insufficiency, and other reproductive abnormalities. Early detection through this test enables clinicians to provide accurate diagnoses, guide treatment strategies, facilitate genetic counseling for affected families, and support informed reproductive decision-making.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender top) vacutainer.
- Alternatively, use one drop of blood on an FTA card provided in the kit.
- Label the sample clearly with patient name, date of birth, and unique ID.
- Store at ambient room temperature; do not freeze.
- Transport to the laboratory within 48 hours of collection.
- Ensure the sample is not hemolyzed or clotted.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The NR5A1 gene plays a pivotal role in gonadal development and steroidogenesis. In my clinical practice, I have seen patients with unexplained infertility or atypical sexual development who were ultimately diagnosed with NR5A1 mutations. This NGS-based test provides a comprehensive analysis of the gene, enabling early diagnosis and personalized management. I recommend this test for any patient presenting with disorders of sex development, unexplained azoospermia, or primary ovarian insufficiency, especially when a genetic etiology is suspected. Early identification through genetic testing allows for informed reproductive planning and appropriate hormonal management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or unlabeled samples
- Sample collected in incorrect container (non-EDTA)
- Sample older than 48 hours at ambient temperature (whole blood)
Understanding Your Results
No pathogenic variant detected
Normal / Negative
Pathogenic variant detected
Abnormal / Positive
Likely pathogenic variant detected
Abnormal / Likely Positive
Variant of Uncertain Significance (VUS)
Indeterminate
Consult your doctor or a clinical geneticist if you or your child experience delayed puberty, ambiguous genitalia, undescended testes, infertility, or irregular menstrual cycles. If a pathogenic or likely pathogenic variant is identified, seek genetic counseling to discuss implications for treatment, family planning, and screening of at-risk family members.
Limitations
- ⚠This test analyzes only the NR5A1 gene and does not screen for mutations in other genes associated with sex development disorders.
- ⚠Deep intronic variants and regulatory region mutations outside the targeted sequencing area may not be detected.
- ⚠A negative result does not completely exclude a genetic cause for the patient's condition.
- ⚠Variants of Uncertain Significance (VUS) may be identified and may require further investigation or family studies.
- ⚠Structural rearrangements such as translocations involving the NR5A1 locus may not be fully captured by NGS.
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very small risk of infection at the blood draw site
- ●Psychological impact of receiving genetic test results, particularly unexpected findings
- ●Risk of identifying Variants of Uncertain Significance (VUS) that may cause anxiety without providing definitive answers
Interfering Factors
- ●Degraded or insufficient DNA quality in the sample
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Contamination during sample collection or transport
- ●Hemolyzed or clotted blood samples may be rejected
Compare With Similar Tests
| Test | NR5A1 Gene SPGF8 NGS Genetic Test | Karyotype Analysis | Whole Exome Sequencing (WES) | SRY Gene Analysis |
|---|---|---|---|---|
| Comparison | NR5A1 Gene SPGF8 NGS Genetic Test | Karyotype analysis examines the number and structure of chromosomes but cannot detect single gene mutations. The NR5A1 NGS test provides gene-level resolution for targeted mutation detection. | WES analyzes all protein-coding genes and is broader in scope but more expensive. The NR5A1 NGS test is a focused, cost-effective option when NR5A1-related disorder is specifically suspected. | SRY gene analysis detects mutations in the sex-determining region Y gene. It is complementary to NR5A1 testing and may be ordered together for comprehensive evaluation of sex development disorders. |
Frequently Asked Questions
What is the NR5A1 Gene SPGF8 NGS Genetic Test?
Who should consider getting the NR5A1 Gene SPGF8 NGS Genetic Test?
What sample is required for the NR5A1 Gene SPGF8 NGS Genetic Test?
How long does it take to get the results of the NR5A1 Gene SPGF8 NGS Genetic Test?
What does a positive result mean?
What does a negative result mean?
Is genetic counseling required before taking this test?
What is the cost of the NR5A1 Gene SPGF8 NGS Genetic Test at DNA Labs India?
Is the NR5A1 Gene SPGF8 NGS Genetic Test covered by insurance or government health schemes?
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