Test Price
2,800 AED✅ Home Collection Available
TSPYL1 Gene Sudden Infant Death with Dysgenesis of the Testes Syndrome Genetic Test in Dubai | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Definitive Molecular Diagnosis for SIDDT
This next-generation sequencing (NGS) test delivers 99.9% diagnostic sensitivity for pathogenic variants in the TSPYL1 gene, enabling conclusive identification of Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT). Processed in ISO 15189:2012 accredited laboratories, the service includes hospital-grade home blood collection via VIP mobile phlebotomy (8 AM to 11 PM daily), temperature-controlled cold-chain specimen transport, and post-result telephonic consultation. Direct insurance billing verification is available through WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TSPYL1 gene test employs comprehensive NGS with full gene sequencing and copy number variation (CNV) analysis to detect all classes of mutations – including missense, nonsense, splice-site, and deep intronic variants – that cause SIDDT. This single-gene approach provides higher resolution than broad exome panels for the specific clinical indication of infant sudden death with testicular dysgenesis.
Our Test vs. Alternative Genetic Screening
| Feature | Our TSPYL1 NGS Test | Standard Gene Panel / WES |
|---|---|---|
| Precision | 99.9% diagnostic sensitivity for TSPYL1 | May miss deep intronic variants |
| Method | NGS with full gene sequencing + CNV analysis | Often limited to hotspots or exome |
| Turnaround Time | 3–4 weeks | 4–8 weeks |
| Specimen | Blood, Extracted DNA, or Dried Blood Spot (FTA Card) | Blood or saliva |
Physician Insight & Safety Protocols
Consultant Medical Genetics Perspective
"Confirming a TSPYL1 mutation provides definitive closure for families affected by unexplained infant loss and enables precise recurrence risk counselling for future pregnancies. However, results must always be correlated with complete autopsy findings and family pedigree analysis. A negative result does not exclude all genetic causes of sudden infant death, and ongoing multidisciplinary surveillance remains essential."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication & Clinical Advisory
Important Precautions Before Testing
Do not discontinue any prescribed medications or alter treatment regimens without prior consultation with the attending physician. This genetic test is a confirmatory diagnostic tool and should not replace ongoing clinical care or emergency interventions.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is not intended for emergency diagnosis or to replace acute clinical evaluation of a symptomatic infant. Do not delay urgent care awaiting results.
- ER Red Flags: If an infant presents with apnea, cyanosis, bradycardia, or unresponsiveness, seek immediate medical attention.
- Test Limitation: Results must be interpreted in conjunction with full clinical and family history; do not make life-support decisions based solely on this test.
Patient FAQ & Clinical Guidance
1. What is TSPYL1 gene testing and why is it important for my child?
TSPYL1 gene mutation analysis identifies pathogenic variants linked to Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT). Establishing a molecular diagnosis provides definitive answers for affected families and delivers accurate recurrence risk estimates for future siblings, enabling informed family planning decisions.
2. What sample is required and how is it collected?
A standard peripheral blood draw, an extracted DNA sample, or a dried blood spot on an FTA card is accepted. Collection is performed by our trained phlebotomists through the VIP mobile home service (available daily from 8 AM to 11 PM) using hospital-grade cold-chain transport to preserve specimen integrity.
3. How long does it take to get results and what happens after?
Results are available within 3 to 4 weeks from sample receipt. A board-certified consultant medical geneticist provides a structured telephonic consultation to interpret the findings, discuss recurrence risks, and coordinate further clinical management with your paediatrician.
4. Is pre-test genetic counseling mandatory before sample collection?
Yes. A dedicated genetic counseling session to construct a detailed three-generation family pedigree is required prior to sample collection. This ensures that the test is appropriately indicated and that all clinical nuances are documented. Schedule your session via WhatsApp +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
Compliance with UAE Health Data Protection Frameworks
All genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical testing safety and informed consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic information is encrypted, access-controlled, and never shared with third parties without explicit written consent.
DNA Labs UAE is a DHA-licensed facility (License No. 1143) operating under the regulatory oversight of the Dubai Health Authority and the UAE Ministry of Health and Prevention.
Clinical & Logistical Metadata
| Test Name | TSPYL1 Gene Sequencing – Sudden Infant Death with Dysgenesis of the Testes Syndrome (SIDDT) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene sequencing + Copy Number Variation (CNV) analysis |
| ICD-10-CM Code | R95.0 (Sudden infant death syndrome with mention of autopsy), Q55.1 (Testicular dysgenesis) |
| LOINC Code | 29577-1 (Sequence analysis of gene) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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