Test Price
2,800 AEDโ Home Collection Available
CATSPER2 Gene (Deafness & Male Infertility) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
This targeted next-generation sequencing (NGS) test analyzes the CATSPER2 gene to identify pathogenic variants underlying autosomal recessive syndromic hearing loss and male sterility. The assay is performed at a DHA-licensed, ISO 15189 accredited laboratory, ensuring a diagnostic sensitivity exceeding 99.9%.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation by DHA-licensed genetic counselors.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CATSPER2 NGS test provides complete coverage of all coding regions, splice sites, and deep intronic mutations linked to the Deafness-Infertility Syndrome (DIS). The assay utilizes the Illumina platform with advanced bioinformatic analysis for robust variant detection, including single nucleotide variants, small insertions/deletions, and copy number variations.
| Feature | Our CATSPER2 NGS Test | Closest Alternative (Single-gene Sanger) |
|---|---|---|
| Precision | >99.9% analytical sensitivity; full gene coverage | ~98% sensitivity; may miss structural variants |
| Method | NGS (Illumina platform) with bioinformatic deep intronic analysis | Sanger sequencing of selected exons only |
| Turnaround | 3โ4 Weeks | 4โ6 Weeks |
| Clinical Reporting | ACMG/AMP classification, CNV detection, and genetic counseling notes | Basic variant description without clinical interpretation support |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics (DHA Registration ID: 9294403): โIdentifying a pathogenic variant in the CATSPER2 gene provides a clear molecular explanation for both hearing impairment and male infertility in affected individuals. This test empowers families with crucial information for early intervention, family planning, and recurrence risk counseling. Please integrate these results with a comprehensive clinical evaluation; our genetic counselors are available to discuss implications for you and your relatives.โ
Advisory Protocol
โ ๏ธ Medical Advice:
Do not discontinue or alter any prescribed medication, including hormonal treatments or hearing aids, without consulting your doctor. The management of existing conditions should continue concurrently with this genetic evaluation.
Exclusion Criteria & Emergency Red Flags
Clinical Exclusion Criteria
- Unsupervised home collection is not eligible for minors (<18 years) without guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Patients with active, untreated systemic infection or unstable medical condition โ postpone testing until stable.
- If you experience sudden, severe hearing deterioration, acute scrotal pain, or signs of testicular torsion, seek immediate emergency care; do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What exactly does the CATSPER2 NGS test detect?
This test sequences the entire CATSPER2 gene to identify pathogenic mutations causing combined congenital sensorineural deafness and male infertility. It detects single nucleotide variants, small deletions/insertions, and copy number variations with high precision.
2. How should I prepare for the test, and is a genetic counseling session required?
Provide a detailed personal and family history of hearing loss/infertility, and a pedigree chart during the mandatory pre-test genetic counseling session. No fasting is required; a blood sample or extracted DNA is sufficient.
3. What do the results mean for my future family planning?
Homozygous or compound heterozygous pathogenic variants confirm autosomal recessive Deafness-Infertility Syndrome, implying a 25% recurrence risk for offspring. Carrier partners can be tested, and preimplantation genetic diagnosis (PGD) options are available to avoid transmission.
UAE Regulatory & Data Privacy Adherence
UAE Healthcare Regulatory Compliance
This test is conducted 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 safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | CATSPER2 Gene (Deafness & Male Infertility) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina Platform |
| ICD-10-CM Code | H90.5, N46.9 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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