Test Price
750 AED✅ Home Collection Available
Spinocerebellar Ataxia Type 7 (SCA7) ATXN7 Gene Mutation Test in UAE | 750 AED | DHA Licensed
Executive Summary & Core Metrics
UAE Trusted Diagnostic Precision
- Accuracy: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary telephonic post-test result interpretation by DHA-licensed genetics consultant.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Key Clinical Metrics
- Turnaround Time: 5 working days (Sample by Tuesday 11 am → Report Saturday).
- Sample Required: 4 mL whole blood in Lavender top (EDTA) tube, shipped refrigerated. Do not freeze.
- Methodology: PCR + Fragment Analysis (Capillary Electrophoresis) with high-resolution CAG repeat sizing.
- Genetic Counseling: Mandatory post-test counseling included for all positive results.
Test Overview & Methodology
The SCA7 ATXN7 gene mutation test identifies pathogenic CAG trinucleotide repeat expansions in the ATXN7 gene, confirming a diagnosis of Spinocerebellar Ataxia Type 7 — a progressive neurodegenerative disorder marked by cerebellar ataxia and retinal degeneration. This gold-standard assay uses polymerase chain reaction (PCR) combined with high-resolution fragment analysis via capillary electrophoresis to deliver definitive molecular results essential for clinical management and genetic counselling. The test provides precise CAG repeat sizing with greater than 99.5% accuracy (±1 repeat), enabling clear differentiation between normal, intermediate, and pathogenic alleles.
The assay is performed on peripheral whole blood collected in EDTA tubes, with strict temperature-controlled transport to our ISO 9001:2015 certified laboratory in Dubai Healthcare City. Results are reported with reference to established normal ranges (typically 4–17 CAG repeats for wild-type alleles, with pathogenic expansions exceeding 36 repeats). Each report includes a detailed clinical interpretation and recommendation for follow-up genetic counselling.
| Feature | Our Test (DHA-Licensed) | Closest Alternative |
|---|---|---|
| Methodology | PCR + Fragment Analysis (Capillary Electrophoresis) | Standard PCR + agarose gel (low resolution) |
| CAG Repeat Sizing Accuracy | >99.5% precise sizing (±1 repeat) | Limited resolution; can miss mosaicism |
| Turnaround Time | 5 working days (Sample by Tue 11 am → Report Sat) | 10–14 days |
| ISO Certification | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Not always specified |
| ICD-10-CM / LOINC | G11.8, Z13.71, Z84.8 / LOINC 78000-9 | May not report structured codes |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403) states: "Molecular confirmation of SCA7 through ATXN7 repeat analysis must never be interpreted as a standalone diagnosis. A pathogenic expansion requires correlation with detailed neurological examination, neuro-ophthalmologic assessment, and comprehensive family pedigree analysis. Patients should receive multidisciplinary guidance before making any life-altering decisions based on genetic status."
Critical Safety Advisory
Patients currently prescribed medications for neurological symptoms — including anti-epileptics, muscle relaxants, or antidepressants — must not discontinue or alter their dosage without direct consultation with their treating physician. Abrupt withdrawal of certain medications may exacerbate ataxia, trigger seizure recurrence, or provoke other serious adverse events.
Exclusion Criteria & Emergency Red Flags
- Cannot be performed on patients unable to provide informed consent or where venipuncture is contraindicated.
- Not recommended as a standalone prenatal or pre-symptomatic test without formal genetic counselling.
- Seek immediate emergency care (call 998) if you experience sudden vision loss, severe imbalance with repeated falls, or difficulty breathing.
- This test confirms genetic status only and does not replace a comprehensive neurological consultation.
Patient FAQ & Clinical Guidance
1. What is the SCA7 ATXN7 gene mutation test and why is it needed?
The SCA7 ATXN7 gene mutation test precisely measures CAG repeat expansion length in the ATXN7 gene to confirm Spinocerebellar Ataxia Type 7 in symptomatic individuals. It is critical for differential diagnosis of progressive ataxia, retinal degeneration, and assessment of hereditary risk for family members. The test provides a definitive molecular answer that guides clinical management, prognosis, and reproductive planning.
2. How is the home blood collection performed and is it painful?
Our DHA-licensed mobile phlebotomist performs a simple venous blood draw from your arm using a sterile lavender-top EDTA tube. Most patients experience only a brief pinch sensation, and the procedure is safe for all ages including children under parental consent. Samples are transported via ISO-certified temperature-controlled cold-chain directly to our laboratory in Dubai Healthcare City, ensuring specimen integrity from collection to analysis.
3. What do positive results mean for my family and future planning?
A positive result indicates the presence of an expanded CAG repeat in ATXN7, confirming SCA7 with autosomal dominant inheritance. Each biological child has a 50% risk of inheriting the mutated allele. Genetic counselling is mandatory to discuss implications for the patient and at-risk relatives, predictive testing options, and family planning strategies including preimplantation genetic diagnosis (PGD). Our consultant geneticist provides a complimentary telephonic counselling session following result delivery.
4. How long does it take to receive results and how are they delivered?
The standard turnaround time is 5 working days from sample receipt. For samples collected by Tuesday 11:00 AM, results are typically available by Saturday. Reports are delivered electronically via secure email and can also be accessed through our patient portal. A DHA-licensed genetics professional contacts all patients with positive results to arrange telephonic interpretation and counseling.
5. Is this test covered by health insurance in the UAE?
Coverage varies by insurance provider and policy. We offer complimentary pre-verification of insurance benefits via WhatsApp at +971 54 548 8731. Submit your policy details and we will confirm your coverage before any testing is performed. For self-pay patients, the test price is 750 AED inclusive of all laboratory fees and the post-test counselling session.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory framework of the Dubai Health Authority (DHA) and complies fully with all applicable UAE federal laws governing health data and personal privacy:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic test results and personal health information are processed, stored, and transmitted in strict compliance with PDPL requirements for consent, data minimization, and individual rights.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Our digital health systems and telemedicine consultations adhere to the security and interoperability standards mandated by this law, ensuring safe electronic exchange of health data.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: All clinical testing and patient consent procedures follow the standards of care and accountability defined under this law, including requirements for informed consent and professional liability coverage.
- DHA Facility License No. 1143: Our laboratory at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE is fully licensed and inspected by the DHA for genetic and molecular diagnostic services.
Clinical & Logistical Metadata
| Test Name | Spinocerebellar Ataxia Type 7 (SCA7) ATXN7 Gene Mutation Test |
| Price (AED) | 750 AED |
| Turnaround Time | 5 working days (Sample by Tuesday 11 AM → Report Saturday) |
| Sample Type / Matrix | 4 mL whole blood in Lavender top (EDTA) tube, shipped refrigerated. Do not freeze. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM. |
| Methodology Used | PCR + Fragment Analysis (Capillary Electrophoresis) with high-resolution CAG repeat sizing (±1 repeat accuracy) |
| ICD-10-CM Code | G11.8, Z13.71, Z84.8 |
| LOINC Code | 78000-9 |
| 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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