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TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test

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TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test

Short Name: TSPYL1 Gene SIDDT NGS Test

Also known as: SIDDT Syndrome, TSPYL1-related sudden infant death syndrome

TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome 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 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestMaleInfants🏠 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

The purpose of this test is to identify mutations in the TSPYL1 gene that cause Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT), enabling accurate diagnosis, informed medical decisions, and genetic counseling for affected families.

Test Code
5292
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No specific preparation required. Provide detailed clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree during genetic counseling session.
2
During the Test:Sample collection and NGS analysis performed as per standard laboratory protocols.
3
After the Test:Results available in 3-4 weeks. Genetic counseling provided for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TSPYL1 gene that cause Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT), enabling accurate diagnosis, informed medical decisions, and genetic counseling for affected families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Label samples accurately with patient details
  • Transport samples at recommended temperatures

Doctor's Notes

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

"Genetic testing for TSPYL1 gene mutations is crucial for early diagnosis and intervention in SIDDT cases, aiding in family counseling and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 ml for blood
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples stable at 2-8°C for 48 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the TSPYL1 gene. Positive results confirm diagnosis of SIDDT, while negative results may require further testing or clinical evaluation.
📊

No mutations detected

Normal finding, no evidence of SIDDT-causing mutations in the TSPYL1 gene

📊

Pathogenic variant detected

Confirms diagnosis of SIDDT; genetic counseling recommended

📊

Variant of uncertain significance

Requires further evaluation, family studies, and genetic counseling

⚠️ When to Consult a Doctor:

If the infant shows symptoms such as sudden death risk, genital abnormalities, developmental delays, or seizures, or if there is a family history of SIDDT, consult a geneticist or pediatrician immediately.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of results; genetic counseling recommended

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestTSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic TestWhole Exome SequencingSingle Gene SequencingGenetic Panel for Sudden Infant Death
ComparisonTSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test

Frequently Asked Questions

What is TSPYL1 Gene SIDDT NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the TSPYL1 gene to diagnose Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT).
Who should take this test?
Male infants with symptoms like sudden death risk, underdeveloped testicles, developmental delays, seizures, or feeding difficulties, and those with a family history of SIDDT.
What are the symptoms of SIDDT?
Symptoms include sudden infant death, underdeveloped or absent testicles, developmental delays, seizures, and difficulty feeding.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to detect mutations in the TSPYL1 gene.
What is the cost of the test?
The cost is INR 20000, which includes sample collection, analysis, and report generation.
Is home collection available?
Yes, free home sample collection is available for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic mutations are present in the TSPYL1 gene, confirming SIDDT diagnosis, or if no mutations are detected.
Is genetic counseling provided?
Yes, genetic counseling is included to help interpret results and provide guidance.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but psychological impact may occur; counseling is available.
How accurate is the test?
NGS genetic testing is highly accurate and reliable for detecting mutations in the TSPYL1 gene.
What should I do if the test is positive?
Consult a geneticist or healthcare provider for further management, genetic counseling, and family planning advice.
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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