Test Price
2,800 AED✅ Home Collection Available
PHF6 Gene Borjeson-Forssman-Lehmann Syndrome Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection — Available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation included.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Executive Summary: This comprehensive NGS-based genetic test for the PHF6 gene achieves 99.9% diagnostic sensitivity (ISO 9001:2015), with premium home phlebotomy and cold-chain logistics, plus post-test clinical consultation. Recommended for diagnosing Borjeson-Forssman-Lehmann syndrome (BFLS), an X-linked intellectual disability disorder.
Test Overview & Methodology
This advanced genetic test analyzes the entire coding region of the PHF6 gene using next-generation sequencing (NGS) to diagnose Borjeson-Forssman-Lehmann syndrome (BFLS). The test detects single nucleotide variants, small insertions/deletions, and copy number variations with >99.9% sensitivity. Results are validated through bioinformatic pipelines and clinical interpretation by a consultant medical geneticist.
| Feature | Our Test (Amplicon / NGS) | Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage with >99.9% sensitivity | Targeted hotspot analysis, may miss rare variants |
| Methodology | Next Generation Sequencing (NGS) with bioinformatic validation | Capillary electrophoresis-based Sanger sequencing |
| Turnaround | 3–4 weeks with comprehensive report | 6–8 weeks, limited interpretive support |
Physician Insight & Safety Protocols
“As a clinical geneticist, I emphasize that a diagnosis of Borjeson-Forssman-Lehmann syndrome requires integration of genetic results with full neurological, developmental, and familial evaluation. This test provides diagnostic clarity but never replaces comprehensive clinical assessment. Always discuss results with your referring physician before making treatment decisions.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Safety & Medication Protocol
Do not discontinue prescribed medication without consulting your doctor. This genetic test provides diagnostic information only; immediate therapeutic changes should not be made based solely on results.
Post-test genetic counseling is mandatory to discuss implications for family members and reproductive planning.
Exclusion Criteria & Emergency Red Flags
- Do not use this test if you require urgent neurological intervention or are experiencing acute seizures — go to the emergency department immediately.
- This test is not indicated for prenatal diagnosis without formal genetic counseling and informed consent.
- Results may reveal incidental findings; a post-test consultation is mandatory.
- Patients with active bleeding disorders or on anticoagulant therapy must consult their physician before blood collection.
Patient FAQ & Clinical Guidance
1. What is the diagnostic accuracy of this PHF6 gene NGS test?
Our NGS test achieves over 99.9% analytical sensitivity for detecting single nucleotide variants and small indels across the entire PHF6 coding region, exceeding international standards for genetic diagnostics.
2. What is the expected turnaround time for results?
Results are typically available within 3–4 weeks. The timeline includes DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, and clinical interpretation. You will receive a comprehensive report with variant classification and clinical recommendations.
3. Does this test include genetic counseling?
Yes. Pre-test genetic counseling is required to draw a pedigree chart and discuss family history. After results, a telephonic consultation with our consultant medical geneticist is included in the package.
4. Does insurance cover the cost of this test?
We offer direct billing verification with major insurers via WhatsApp at +971 54 548 8731. We assist in obtaining pre-authorization from your insurance provider. Coverage depends on your policy and medical necessity.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance
This service fully complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and transfer of personal health data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating digital health records and telehealth.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring patient consent and clinical safety standards.
- ISO 9001:2015 – Quality management (Cert: INT/EGQ/2509DA/3139).
All genetic data is encrypted and stored within UAE-based servers. Results are shared only with the ordering physician and the patient after identity verification.
Clinical & Logistical Metadata
| Test Name | PHF6 Gene Sequencing (Borjeson-Forssman-Lehmann Syndrome) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) – preferred; saliva (Oragene) accepted as alternative |
| Methodology Used | Next Generation Sequencing (NGS) – Amplicon-based, Illumina platform; bioinformatic analysis per ACMG guidelines |
| ICD-10-CM Code | Q87.8 (Other specified congenital malformation syndromes), F70 (Mild intellectual disabilities) related |
| LOINC Code | 92788-5 (PHF6 gene full sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians