Test Price
2,800 AED✅ Home Collection Available
PHF8 Gene Sequencing (Siderius Syndrome) – Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
DNA Labs UAE offers definitive molecular diagnosis of X-linked intellectual disability Siderius type through targeted PHF8 gene sequencing using Next Generation Technology (NGS) with 99.9% diagnostic sensitivity. This test is essential for accurate syndromic classification, informed family planning, and tailored neurological management. The service includes VIP mobile phlebotomy with temperature-controlled cold-chain home collection, complimentary telephonic clinical guidance after results, and insurance verification support via WhatsApp. The assay is fully compliant with Dubai Health Authority (DHA) regulations, 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.
Diagnostic Accuracy
99.9% Sensitivity via ISO 9001:2015 Certified NGS Processing
Premium Home Collection
VIP Mobile Phlebotomy with Cold-Chain Logistics (8 AM – 11 PM)
Post-Test Support
Telephonic Clinical Guidance for Result Interpretation
Insurance Verification
Direct Billing Check via WhatsApp +971 54 548 8731
Test Overview & Methodology
The PHF8 Gene Sequencing test provides complete analysis of the PHF8 coding region and splice sites using targeted NGS with Sanger confirmation. This approach delivers high-depth coverage essential for detecting single nucleotide variants, small insertions or deletions, and copy number changes responsible for X-linked intellectual disability Siderius type. Genetic counselling and pedigree analysis are mandatory prerequisites to ensure accurate variant interpretation and clinical correlation.
| Feature | Our Test (PHF8 NGS) | Whole Exome Sequencing |
|---|---|---|
| Precision | Complete coding region & splice sites of PHF8 | All exons (~1% of genome), broader but less depth |
| Methodology | Targeted NGS with Sanger validation | NGS with macro-array capture |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Cost | 2,800 AED | ~5,500–8,000 AED |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I witness the profound emotional journey families undertake when seeking answers for developmental delays. The PHF8 gene test provides definitive molecular evidence to guide targeted neurological care and family planning. I urge all patients to interpret results only with expert clinical correlation and never alter treatment without specialist consultation.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Clinical Advisory
Exclusion Criteria & Emergency Red Flags
- Not suitable as a standalone emergency diagnostic test.
- Patients on anticoagulant therapy require formal medical clearance prior to blood collection.
- If the child experiences seizures, acute neurological decline, or loss of consciousness, seek immediate emergency care; do not wait for test results.
Patient FAQ & Clinical Guidance
1. What does the PHF8 gene test detect?
PHF8 gene sequencing definitively diagnoses X-linked intellectual disability Siderius type and reveals carrier status for family planning. The test analyzes the entire coding region of the PHF8 gene for single nucleotide variants, small indels, and copy number changes that disrupt normal neurodevelopment.
2. How should I prepare for the sample collection?
No special preparation is required; a standard blood draw is collected by our home phlebotomist using temperature-controlled cold-chain logistics. However, a genetic counselling session to review family history and draw a detailed pedigree is mandatory before testing, as this ensures accurate interpretation of results.
3. What is the turnaround time and how will I receive my report?
Your PHF8 NGS result is typically available within 3 to 4 weeks and is delivered through a secure online portal with a pre-scheduled telephonic consultation. The final report includes pathogenicity classification according to ACMG guidelines and actionable recommendations co-signed by our Consultant Medical Geneticist.
4. Can this test be performed on other family members?
Yes, cascade screening is recommended for at-risk relatives once a pathogenic variant is identified in the proband. Carrier testing for female relatives and confirmatory testing for symptomatic males can be arranged through our genetic counselling service.
5. What are the limitations of this test?
This test detects variants within the PHF8 coding region and splice sites only. It does not assess the full spectrum of genes associated with intellectual disability. Regulatory elements, deep intronic variants, and large structural rearrangements may not be identified. Negative results do not exclude a genetic cause and may warrant broader testing such as whole exome sequencing.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
All genetic testing services at DNA Labs UAE operate under the regulatory oversight of the Dubai Health Authority (DHA). Patient data is protected under 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 laboratory operations adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient consent, safety, and quality standards.
The laboratory is ISO 9001:2015 certified and follows strict confidentiality protocols for genetic information. Results are shared only with the ordering physician and the patient through secure channels.
Clinical & Logistical Metadata
| Test Name | PHF8 Gene Sequencing (Siderius Syndrome) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral Venous) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM – 11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) with Sanger Validation, Bioinformatic Alignment to GRCh38 |
| ICD-10-CM Code | Z13.71, F78.9, Z82.79 |
| LOINC Code | 81661-6 |
| DHA Facility License & Laboratory Address Invariants | DHA Facility License Number: 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians