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SRY Gene 46,XX sex reversal type 1 NGS Genetic Test

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SRY Gene 46,XX sex reversal type 1 NGS Genetic Test

Short Name: SRY Gene 46,XX Sex Reversal Type 1 Test

Also known as: 46,XX sex reversal type 1, SRY gene disorder, Sex development disorder

SRY Gene 46,XX sex reversal type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose mutations in the SRY gene that cause 46,XX sex reversal type 1, aiding in the identification and management of sex development disorders.

Test Code
5518
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation required. Ensure proper identification and consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test implications and provide informed consent.
2
During the Test:Sample collection as per standard instructions; no special procedures required during testing.
3
After the Test:Wait for the report as per turnaround time and follow up with a physician for interpretation.

About This Test

Who Should Get This Test

To diagnose mutations in the SRY gene that cause 46,XX sex reversal type 1, aiding in the identification and management of sex development disorders.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment
  • Label samples correctly with patient details
  • Follow standard phlebotomy procedures

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is crucial for diagnosing sex development disorders and guiding appropriate management, including genetic counseling and treatment options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the SRY gene, which may be associated with 46,XX sex reversal type 1.
📊

No pathogenic mutation detected

Normal SRY gene function; condition unlikely due to SRY mutations

📊

Pathogenic mutation detected

Likely cause of 46,XX sex reversal type 1; further clinical evaluation recommended

⚠️ When to Consult a Doctor:

If symptoms of sex development disorders are present, such as ambiguous genitalia or infertility, or if there is a family history of similar conditions.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Limited to SRY gene analysis only

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of results may require counseling

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing
  • ●Improper sample handling

Compare With Similar Tests

TestSRY Gene 46,XX sex reversal type 1 NGS Genetic TestKaryotypingFISH for SRY Gene
ComparisonSRY Gene 46,XX sex reversal type 1 NGS Genetic Test

Frequently Asked Questions

What is the SRY Gene 46,XX Sex Reversal Type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the SRY gene for mutations causing 46,XX sex reversal type 1, a condition where individuals with XX chromosomes develop male characteristics.
Who should consider taking this test?
Individuals with symptoms like ambiguous genitalia, absence of menstruation, infertility, or a family history of sex development disorders should consider this test.
What are the common symptoms of 46,XX sex reversal type 1?
Symptoms include absence of menstruation, presence of male external genitalia, testes, ovarian development issues, and infertility.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to sequence the SRY gene for mutations.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What does a positive result mean?
A positive result indicates a mutation in the SRY gene, which may be the cause of 46,XX sex reversal type 1, requiring further clinical evaluation.
Is the test covered by insurance?
Generally, this test is not covered by insurance, and costs may need to be paid out of pocket. Check with your insurer for specifics.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; consult a genetic counselor for prenatal testing options.
What are the risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising. Psychological impacts may require counseling.
How accurate is the NGS technology for this test?
NGS technology is highly accurate for detecting gene mutations, but results should be interpreted in conjunction with clinical findings.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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