Test Price
2,800 AED✅ Home Collection Available
CATSPER1 Gene (SPGF7) Genetic Test in UAE | 2,800 AED | DHA Licensed Molecular Diagnostics
Executive Summary & Core Metrics
Core Metrics at a Glance
The CATSPER1 Gene (SPGF7) Genetic Test employs next-generation sequencing (NGS) to detect pathogenic variants across the entire coding region of the CATSPER1 gene, providing a definitive molecular diagnosis for spermatogenic failure type 7. This assay delivers 99.9% diagnostic sensitivity under ISO 9001:2015 accreditation (Cert: INT/EGQ/2509DA/3139). The service includes a mandatory pre-test genetic counselling session, hospital-grade home phlebotomy via temperature-controlled cold-chain logistics, and a post-test telephonic consultation with a consultant medical geneticist.
- ✓ 99.9% Diagnostic Sensitivity across all coding exons and splice junctions
- ✓ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
- ✓ Post-test genomic counselling session included in the turnaround cycle
Test Overview & Methodology
The CATSPER1 Gene (SPGF7) Genetic Test is a comprehensive next-generation sequencing assay that analyses the entire coding region of the CATSPER1 gene to identify pathogenic variants causing spermatogenic failure type 7 and associated male infertility. This test provides a definitive molecular diagnosis for couples planning assisted reproduction, offering unmatched precision over standard semen analysis. The methodology comprises targeted enrichment of the CATSPER1 genomic region, paired-end sequencing on an Illumina platform, and bioinformatic annotation against GRCh38 with stringent variant filtering.
| Feature | CATSPER1 NGS Test | Standard Semen Analysis |
|---|---|---|
| Precision | Single-nucleotide resolution, detects all coding mutations and splice-site variants | Macroscopic and microscopic evaluation only; no genetic insight |
| Method | Next Generation Sequencing (NGS) with bioinformatic annotation and ACMG classification | Manual or automated sperm count, motility, and morphology assessment |
| Speed | 3–4 weeks including pre-test counselling and post-test consultation | 1–2 hours; no molecular results |
| Clinical Outcome | Identifies root genetic cause; guides ICSI, PGD, and reproductive counselling | Descriptive only; cannot detect genetic aetiology |
Physician Insight & Safety Protocols
"As a consultant medical geneticist, I emphasise that this test is a diagnostic instrument, not a prognosis. A pathogenic finding clarifies the underlying cause of male infertility and enables targeted interventions such as ICSI with preimplantation genetic testing. However, results must always be interpreted alongside hormonal profiles, semen parameters, and a three-generation pedigree. Modern reproductive medicine offers viable pathways even with confirmed SPGF7; please discuss all options with your clinician."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Pre-Test Advisory
Do not discontinue any prescribed medication or hormone therapy without consulting your treating physician. Abrupt changes can affect baseline hormone levels and may interfere with the interpretation of genetic results. All clinical decisions must remain under the supervision of a DHA-licensed physician.
Exclusion Criteria & Red Flags
- Individuals who have undergone allogeneic bone marrow transplant within the past 6 months (donor-derived germline DNA may confound results).
- Active severe infection with high fever on the day of blood draw (risk of hemolysis and sample rejection).
- Inability to provide informed consent or absence of legal guardianship for minors under UAE Federal Law No. 2 of 2019.
- Emergency Red Flags: If you experience sudden scrotal pain, high fever, or signs of testicular torsion, seek emergency care immediately. The genetic test is not time-sensitive, but the clinical condition requires urgent urological evaluation.
Patient FAQ & Clinical Guidance
1. What is the CATSPER1 gene test and why is it performed?
This is a DNA sequencing test that identifies disease-causing mutations in the CATSPER1 gene, which is responsible for spermatogenic failure type 7 (SPGF7). It provides a definitive molecular diagnosis for male infertility, enabling informed decisions regarding assisted reproductive techniques such as ICSI and preimplantation genetic diagnosis.
2. How is the sample collected and what preparation is needed?
A certified phlebotomist will collect 5 mL of whole blood at your preferred location through our VIP Mobile Phlebotomy service, available daily from 8 AM to 11 PM. No fasting is required. Alternatively, an FTA card with a single drop of blood may be used. A mandatory pre-test genetic counselling session will be scheduled to construct a detailed pedigree chart prior to sample collection.
3. What do the results mean and how will I receive them?
Results are classified according to ACMG guidelines as pathogenic, likely pathogenic, variant of uncertain significance, likely benign, or benign. A secure encrypted PDF report is delivered electronically, followed by a telephonic consultation with our consultant medical geneticist to explain the findings and discuss reproductive implications.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with the UAE legal framework for health data and genetic information:
- Data Protection: Adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient information processing and storage.
- Health Information Governance: Complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for secure electronic health records and telemedicine.
- Medical Liability & Consent: All clinical procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed consent and patient safety standards.
- Quality Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) with regular external audits.
Clinical & Logistical Metadata
| Test Name | CATSPER1 Gene (SPGF7) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (5 mL) or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) with Bioinformatic Annotation |
| ICD-10-CM Code | N46.02 |
| LOINC Code | 90228-2 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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