Test Price
2,800 AEDโ Home Collection Available
FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis (BPES) Genetic Test in UAE | 2800 AED | DHA-Licensed Laboratory
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 certified NGS sequencing, ensuring precise identification of FOXL2 pathogenic variants.
- Premium Logistics: DHA-compliant home sample collection (whole blood, extracted DNA, or dried blood spot on FTA card) via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain transport, available daily 8 AM โ 11 PM.
- Clinical Guidance: Complimentary post-test telephone consultation with a DHA-licensed Consultant Medical Geneticist to interpret results and discuss clinical implications.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Core Metrics: This FOXL2 gene test delivers molecular confirmation of BPES subtypes. Turnaround time is 21โ28 calendar days from sample receipt. The assay covers coding exons, splice junctions, and deep intronic regions with a detection rate exceeding 99% for known pathogenic variants.
Test Overview & Methodology
Clinical Utility: The FOXL2 gene test detects pathogenic mutations causing Blepharophimosis, Epicanthus Inversus, and Ptosis Syndrome (BPES), a rare genetic disorder affecting eyelid development and, in some cases, ovarian function. This NGS-based assay is essential for accurate diagnosis, differentiating BPES type I (with premature ovarian failure) from type II (isolated eyelid features), guiding surgical management, and informing reproductive risk counselling.
Technical Approach: Targeted next-generation sequencing of the FOXL2 gene including all coding exons, intron-exon boundaries, and 5โฒ/3โฒ UTR regions. Variant calling is performed against reference genome GRCh38 with confirmatory Sanger sequencing for all reported pathogenic and likely pathogenic variants. The assay is validated for germline DNA obtained from peripheral whole blood, purified genomic DNA, or FTA card dried blood spots.
Methodology Comparison: NGS vs. Conventional Sanger Sequencing
| Parameter | Our DHA-Licensed FOXL2 NGS Test | Conventional Sanger Sequencing |
|---|---|---|
| Detection Rate | >99% of coding + non-coding pathogenic variants | ~85โ90%; may miss deep intronic/regulatory mutations |
| Turnaround Time | 21โ28 days | 28โ42 days |
| Regulatory Alignment | Full DHA/MOHAP compliance, ISO 9001:2015 | Variable; often lacks UAE-specific accreditation |
| Sample Acceptance | Whole blood, extracted DNA, or FTA card spot | Usually requires high-quality extracted DNA |
Physician Insight & Safety Protocols
Clinical Interpretation by Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: โA positive FOXL2 result provides molecular confirmation of BPES and should be correlated with a comprehensive ophthalmic and systemic assessment. This test is a critical piece of the diagnostic puzzle, but ultimate clinical decisions must integrate the patientโs full phenotype and family history. Always interpret findings in concert with a medical geneticist and offer reproductive counselling when BPES type I is suspected due to the risk of premature ovarian insufficiency.โ
Advisory Note
Medication & Clinical Caution
Do not discontinue, alter, or initiate any prescribed medication or treatment based solely on genetic test results without direct consultation with your treating physician. Genetic findings require correlation with clinical phenotype, family history, and may necessitate specialist referral.
Exclusion Criteria & Emergency Red Flags
Patient Safety Information
Exclusion Criteria: This germline test is not validated for somatic mosaicism analysis in tumour tissue; such cases require dedicated oncology workflows and prior genetic counselling approval. Testing must be preceded by formal genetic counselling and signed informed consent. Patients with a known diagnosis of a different syndromic craniofacial disorder should discuss test selection with their genetic counsellor.
Emergency Red Flags (seek immediate medical care regardless of test status): Sudden vision loss, acute eyelid or orbital swelling, signs of ovarian cyst rupture (severe pelvic pain), or any new-onset respiratory distress in a known BPES family.
Patient FAQ & Clinical Guidance
1. What is the FOXL2 gene test used for?
Summary: Our NGS test detects FOXL2 mutations causing blepharophimosis-ptosis-epicanthus inversus syndrome, aiding accurate diagnosis and family planning.
It identifies pathogenic variants throughout the FOXL2 gene, differentiates BPES type I (with ovarian failure) from type II (isolated eyelid features), and enables informed surgical timing and reproductive options. The test is also used for predictive testing in at-risk family members following appropriate counselling.
2. How is the sample collected and what is the turnaround time?
Summary: Accurate FOXL2 results from DHA-licensed home blood or FTA card collection within three to four weeks.
A qualified DHA-licensed phlebotomist visits your location between 8 AM and 11 PM to draw blood or prepare a dried blood spot on an FTA card. The sample is transported in a cold-chain system to our ISO-certified laboratory for NGS processing; results are ready in 21โ28 calendar days. For patients outside Dubai, a secure medical courier can arrange specimen retrieval from a designated collection centre.
3. Does this test require genetic counseling and special preparation?
Summary: Required genetic counselling before draw; no fasting or medication pauseโjust provide your complete medical history.
UAE regulations mandate a pre-test genetic counselling session to draw a family pedigree, discuss inheritance patterns, and obtain written informed consent. Patients may continue all medications and meals as usual; however, a detailed clinical history including symptoms, prior surgeries, and family eye or ovarian disorders must be shared before sampling. No special preparation such as fasting or medication washout is needed.
4. What do the results mean for my family members?
Summary: BPES follows autosomal dominant inheritance; a positive result implies a 50% risk for offspring and may prompt cascade testing in relatives.
If a pathogenic FOXL2 variant is identified, first-degree relatives (parents, siblings, children) may be at risk and could benefit from predictive testing. Genetic counselling is strongly recommended before any family member undergoes testing, and reproductive options including preimplantation genetic testing (PGT) can be discussed with a fertility specialist.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This genetic test strictly follows UAE 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 patient data are encrypted, access-controlled, and processed only with explicit informed consent. Clinical testing safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and operates under DHA facility license #1143. Pre-test genetic counselling and written informed consent are mandatory for all genetic testing as per UAE healthcare regulations.
Clinical & Logistical Metadata
| Test Name | FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis (BPES) Genetic Test โ NGS Sequencing |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21โ28 calendar days from sample receipt |
| Sample Type / Matrix | Peripheral whole blood (3โ5 mL in EDTA tube), extracted genomic DNA (โฅ1 ยตg), or dried blood spot on FTA card |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) on Illumina platform with confirmatory Sanger sequencing for all reported variants |
| ICD-10-CM Code | Q10.7 |
| LOINC Code | 102037-7 |
| DHA Facility License & Laboratory Address | DHA License #1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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