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Test Price

2,800 AED

โœ… Home Collection Available

PDHA1 Gene (Leigh Syndrome, X-Linked) Genetic Test in UAE

Executive Summary & Core Metrics

This advanced next-generation sequencing (NGS) test delivers comprehensive analysis of the PDHA1 gene to confirm X-linked Leigh syndrome, a progressive neurometabolic disorder. The test achieves 99.9% diagnostic sensitivity through ISO-accredited processing and includes pre-paid VIP mobile phlebotomy with temperature-controlled cold-chain home collection. A telephonic post-test clinical guidance session is provided for result interpretation, and direct insurance billing verification is available via WhatsApp at +971 54 548 8731.

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM โ€“ 11 PM).
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation.
  • Insurance Verification: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

The PDHA1 Gene NGS test is a definitive molecular diagnostic tool designed to identify pathogenic variants in the PDHA1 gene, confirming X-linked Leigh syndromeโ€”a progressive neurometabolic disorder. This next-generation sequencing test delivers superior resolution compared to single-gene Sanger sequencing, enabling detection of both common and rare mutations across the entire coding region, including single nucleotide variants, small indels, and copy number changes.

Feature Our Test (NGS โ€“ PDHA1 Full Gene) Closest Alternative (Sanger Sequencing, Exonโ€‘Limited)
Precision 99.9% diagnostic sensitivity; detects single nucleotide variants, small indels, and copy number changes Limited to hotspot exons; may miss deep intronic or regulatory variants
Methodology NGS (Next Generation Sequencing) โ€“ ISO 9001:2015 certified lab Sanger sequencing โ€“ longer TAT, manual interpretation
Turnaround Time 3 to 4 Weeks 6โ€“8 Weeks
Price (incl. home collection) 2,800 AED Approx. 3,200 AED (variable)
Regulatory Compliance Full DHA/MOHAP, UAE PDPL, ISO 9001:2015 Varies by provider

Physician Insight & Safety Protocols

โ€œThe NGS-based PDHA1 gene test is critical for confirming X-linked Leigh syndrome in children presenting with unexplained neurological regression. Results must always be correlated with cranial MRI and metabolic laboratory findings to guide clinical management. A thorough pre-test genetic counseling session with pedigree analysis is essential before sample collection.โ€

โ€” Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403

Advisory & Precautions

Do not discontinue or modify any prescribed medications without prior consultation with your treating physician.

Exclusion Criteria & Emergency Red Flags

  • This test is not intended for screening asymptomatic individuals without a documented family history or prior genetic counseling.
  • Minors require explicit parental or legal guardian consent and a mandatory pre-test genetic counseling session in accordance with UAE Federal Law.
  • Not designed for forensic identity, parentage determination, or legal paternity testing.
  • If the patient experiences acute neurological deterioration (e.g., seizures, respiratory failure, or coma), seek emergency medical services immediately. This test does not replace urgent clinical management.

Pre-Test Requirement: A genetic counseling session to construct a three-generation pedigree and review family history is mandatory before sample collection.

Patient FAQ & Clinical Guidance

1. What is the purpose of the PDHA1 gene NGS test?

This test detects pathogenic mutations in the PDHA1 gene to confirm X-linked Leigh syndrome, a severe neurometabolic disorder that requires early intervention and multidisciplinary care. The result helps guide prognosis, family planning, and therapeutic decision-making.

2. How is the sample collected and what is the turnaround time?

A peripheral whole blood sample, extracted DNA, or a dried blood spot on an FTA card is collected via VIP mobile phlebotomy at your home between 8 AM and 11 PM. Results are reported within 3 to 4 weeks from sample receipt at the laboratory.

3. Is this test covered by insurance in the UAE?

Coverage varies by policy. Our team verifies your insurance eligibility and provides direct billing where applicable. Send your policy details via WhatsApp to +971 54 548 8731 for a prompt assessment.

4. Who should consider this genetic test?

This test is indicated for children or adults with clinical suspicion of Leigh syndrome, particularly those with neurological regression, lactic acidosis, or characteristic MRI findings. It is also appropriate for at-risk family members following positive genetic counseling.

UAE Regulatory & Data Privacy Adherence

Trust & Compliance Framework

  • Strict adherence to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient data handling and storage.
  • Compliance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health data security.
  • Clinical safety and patient consent governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
  • Laboratory accredited under ISO 9001:2015 โ€“ Certificate No. INT/EGQ/2509DA/3139.
  • VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. WhatsApp Support: +971 54 548 8731.

Clinical & Logistical Metadata

Test Name PDHA1 Gene (Leigh Syndrome, X-Linked) Genetic Test โ€“ Next Generation Sequencing
Price (AED) 2,800 AED
Turnaround Time 3 to 4 Weeks
Sample Type / Matrix Peripheral Whole Blood, Extracted DNA, or FTA Card Blood Spot
Methodology Used Next Generation Sequencing (NGS) โ€“ Full Gene Coverage
ICD-10-CM Code G31.82 (Leigh Syndrome)
LOINC Code 82272-8 (Genetic analysis of a specific gene panel)
DHA Facility License & Laboratory Address License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE

ุฏุนู… ุซู†ุงุฆูŠ ุงู„ู„ุบุฉ ู…ุชุงุญ

ุงู„ุชุญู‚ู‚ ู…ู† ุงู„ุชุบุทูŠุฉ ุงู„ุชุฃู…ูŠู†ูŠุฉ

Check Insurance Coverage Instantly

Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.

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โœ… DHA Certified โœ… ISO 15189 โœ… HIPAA Compliant

Available in Arabic, English, Hindi & Urdu

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ISMS 27001:2022

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ISO Accredited

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HIPAA

All reports reviewed by DHA-Certified physicians