Test Price
2,800 AED✅ Home Collection Available
TPP1 Gene Spinocerebellar Ataxia Type 7 Autosomal Recessive Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary: Next‑Generation Sequencing (NGS) of the TPP1 gene for detecting pathogenic variants causing spinocerebellar ataxia type 7 (autosomal recessive) with a diagnostic sensitivity of 99.9% at our ISO 9001:2015 accredited laboratory. VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM. Post‑test telephonic clinical guidance and direct insurance verification via WhatsApp (+971 54 548 8731) are included.
99.9% diagnostic sensitivity via ISO‑accredited NGS processing with orthogonal confirmation of clinically significant variants.
VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM.
Telephonic post‑test clinical guidance to interpret results in context of family history and current neurological status.
Direct billing verification via WhatsApp +971 54 548 8731 before booking.
Test Overview & Methodology
The TPP1 gene spinocerebellar ataxia type 7 autosomal recessive NGS test analyses the entire coding region of the TPP1 gene for pathogenic variants linked to SCAR7 (spinocerebellar ataxia, autosomal recessive type 7), a progressive neurodegenerative disorder. This test delivers molecular confirmation within 3–4 weeks using next‑generation sequencing with confirmatory Sanger sequencing, enabling precise genetic counselling and early neurological intervention.
| Feature | Our Test (NGS via ISO 9001:2015) | Alternative Single‑Gene Test |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for single nucleotide variants & small indels; CNV analysis optional | ~95% sensitivity; may miss variants in non‑coding or regulatory regions |
| Methodology | Next‑Generation Sequencing with confirmatory Sanger sequencing for pathogenic calls | Sanger sequencing of selected exons only |
| Turnaround Time | 3–4 weeks (expedited options available) | 4–6 weeks |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA 9294403): “A positive TPP1 variant report should never be interpreted in isolation. It must be correlated with a thorough neurological examination, a detailed family history, and, when indicated, neuroimaging studies. Genetic results can empower families but also raise complex emotional and ethical considerations – our team is committed to providing compassionate post‑test counselling.”
⚠️ Medication Warning
Do not discontinue any prescribed neurological or psychiatric medication without explicit advice from your treating physician.
Safety Exclusion Criteria & Emergency Red Flags
- Patient must be clinically stable for home phlebotomy; acute ataxic crisis or altered consciousness requires immediate hospital assessment.
- Minors (<18 years) require written consent from a legal guardian as per Federal Decree‑Law No. 4 of 2016 on Medical Liability; genetic counselling is mandatory before sampling.
- If the patient has received a blood transfusion in the last 21 days, DNA extraction from whole blood may be compromised – use buccal swab or FTA card alternative.
- Emergency red flags: sudden onset of severe ataxia, dysphagia with respiratory distress, or rapidly progressing motor loss – proceed to nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What does this TPP1 gene test detect and who should consider it?
This NGS test detects pathogenic variants in the TPP1 gene causing spinocerebellar ataxia type 7 (autosomal recessive), and is recommended for individuals with progressive ataxia, dysarthria, or a family history of recessive ataxia.
2. How long does it take to get results and what are the sample requirements?
Results are released within 3–4 weeks from sample receipt at the laboratory. A detailed clinical history and a genetic counselling session to draw the pedigree are mandatory prerequisites.
3. Will health insurance cover the cost of this test in the UAE?
Many UAE health plans cover diagnostic genetic tests when prescribed by a neurology or genetics consultant. Please contact us via WhatsApp (+971 54 548 8731) for direct insurance verification before booking.
UAE Regulatory & Data Privacy Adherence
This diagnostic service complies with the 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. All genetic data is processed in accordance with DHA guidelines and stored on secure, UAE‑hosted infrastructure. Patient consent and data subject rights are strictly observed.
Clinical & Logistical Metadata
| Test Name | TPP1 Gene Sequencing (Spinocerebellar Ataxia Type 7) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks (expedited options available) |
| Sample Type / Matrix | Peripheral Whole Blood or Buccal Swab – VIP Home Phlebotomy Available |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | G11.2 (Spinocerebellar ataxia, unspecified) |
| LOINC Code | 81247-9 (TPP1 gene mutation detection) |
| DHA Facility License & Address | DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians