Test Price
2,800 AED✅ Home Collection Available
PKHD1L1 Gene Autism, PKHD1L1-related Genetic Test in UAE | 2800 AED | DHA-licensed Genetic Diagnostics
Accuracy Guarantee
99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM – 11 PM, daily across all emirates).
Clinical Guidance
Telephonic Post-Test Clinical Guidance with a DHA-licensed genetic counsellor to interpret results and discuss family implications.
Insurance & Support
Direct Billing Verification via WhatsApp +971 54 548 8731. All major UAE insurers accepted.
99.9% diagnostic accuracy, ISO-certified home collection, post-result genetic counselling, and direct insurance support—all delivered under strict DHA quality protocols.
Executive Summary & Core Metrics
Test at a Glance: The PKHD1L1 gene Next-Generation Sequencing (NGS) test identifies pathogenic variants strongly associated with syndromic and non-syndromic autism spectrum disorders. Early molecular diagnosis enables targeted developmental interventions, familial risk stratification, and informed genetic counselling. The test is performed under ISO 9001:2015 accreditation with a turnaround time of 3–4 weeks.
Key Metric: Single-nucleotide resolution exceeding 99.9% sensitivity for coding exons and splice-site regions of the PKHD1L1 gene.
Test Overview & Methodology
The PKHD1L1 gene genetic test employs Next-Generation Sequencing (NGS) with deep coverage and proprietary in-house bioinformatics pipelines to detect single-nucleotide variants, insertions, deletions, and splice-site mutations. This level of resolution is essential for identifying the molecular basis of autism spectrum disorders where chromosomal microarray (CMA) fails to detect sequence-level changes. The test supports early intervention planning and enables cascade screening for at-risk family members.
| Feature | Our PKHD1L1 NGS Test | Closest Alternative (Chromosomal Microarray) |
|---|---|---|
| Diagnostic Precision | Single-nucleotide resolution, >99.9% sensitivity | 50–200 kb resolution, misses point mutations |
| Methodology | NGS (Next Generation Sequencing) with deep coverage & in-house bioinformatics | Array-CGH, unable to detect sequence variants |
| Turnaround Time | 3–4 Weeks (stat request available) | 4–6 Weeks |
| UAE Regulatory Approval | DHA Facility License 1143, ISO 9001:2015 | Variable; often lacks local genetic accreditation |
Physician Insight & Safety Protocols
A Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics | DHA Registration ID: 9294403)
Receiving a possible genetic diagnosis for a child or family member can be a deeply emotional journey. This PKHD1L1 gene test, when integrated with a comprehensive developmental and neurological assessment, offers clarity on the underlying aetiology and opens the door to personalised intervention strategies. I strongly advise that all results be reviewed with the treating physician and a certified genetic counsellor—no single genetic finding defines a person's potential or limits their future.
Advisory Precautions
Critical Clinical Advisory
This genetic test is a diagnostic aid and must never be used as the sole basis for irreversible medical decisions, including pregnancy termination or changes to ongoing therapies without multi-disciplinary consultation.
Safety Exclusion Criteria & Red Flags
- This test is not intended for acute medical emergencies. If the patient exhibits sudden loss of consciousness, seizures, or rapid neurological deterioration, seek immediate emergency care.
- A positive or negative result does not replace a full clinical workup by a developmental paediatrician, neurologist, or genetic specialist.
- Self-collected samples are strictly prohibited. Specimen collection must be performed only by a DHA-registered phlebotomist or a licensed physician after obtaining informed consent and pre-test genetic counselling.
- Individuals with known haematological disorders that require specialised blood-collection protocols must notify the laboratory prior to scheduling a home visit.
Patient FAQ & Clinical Guidance
1. What does the PKHD1L1 gene test tell me about my child's autism risk?
This NGS test detects pathogenic variants in the PKHD1L1 gene that are strongly associated with both syndromic and non-syndromic autism spectrum disorders. A positive result enables clinicians to tailor developmental therapies, initiate early intervention programmes, and offer cascade genetic counselling for relatives. A negative result does not exclude other genetic or environmental contributors to autism; further testing may be indicated based on clinical presentation.
2. How is the sample collected and is a home visit possible?
Our DHA-licensed phlebotomist visits your home for a painless blood draw (5 ml EDTA tube), FTA card spot, or pickup of previously extracted DNA. The entire collection process takes under 10 minutes and follows strict temperature-controlled cold-chain transport. You may also choose to visit one of our partner collection centres across Dubai, Abu Dhabi, Sharjah, and Ajman. Home visits are available daily from 8 AM to 11 PM.
3. What is the turnaround time and total cost for the PKHD1L1 test?
Results are delivered within 3–4 weeks from sample receipt, priced at 2,800 AED inclusive of mandatory pre-test genetic counselling, the NGS analysis, and a secure digital report reviewed by a board-certified clinical geneticist. Stat processing (14 days) can be arranged for an additional fee with prior approval from the laboratory. The final report is made available via our encrypted patient portal with telephonic follow-up guidance.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
- All genetic testing and patient data handling are 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, patient consent, and medical liability follow the provisions of Federal Decree-Law No. 4 of 2016 on Medical Liability.
- The laboratory holds ISO 9001:2015 certification (INT/EGQ/2509DA/3139) and operates under DHA Facility License Number 1143.
- All genetic data are encrypted in transit and at rest; access is restricted to authorised clinical personnel only. Results are never shared with third parties without explicit patient consent.
Clinical & Logistical Metadata
| Test Name | PKHD1L1 Gene Autism, PKHD1L1-related Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (stat processing available at additional fee) |
| Sample Type / Matrix | Whole blood (5 ml EDTA tube), FTA card dried blood spot, or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with deep coverage and in-house bioinformatics |
| ICD-10-CM Code | F84.0 (Autistic disorder) |
| LOINC Code | 94230-0 (Autism spectrum disorder gene panel in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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