Test Price
2,800 AEDโ Home Collection Available
MBTPS2 Gene IFAP Syndrome Genetic Test in UAE | AED 2800 | DNA Labs UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS 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 with a Consultant Medical Geneticist.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Price: AED 2,800
Turnaround Time: 3โ4 Weeks
Sample: Peripheral Blood (3โ5 ml) or Buccal Swab
Method: Next-Generation Sequencing (NGS) โ Whole Exon Coverage
Test Overview & Methodology
The MBTPS2 gene NGS test sequences the entire coding region to identify pathogenic variants responsible for Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) syndrome, a rare X-linked disorder. This high-coverage Next-Generation Sequencing assay delivers comprehensive genotype information for definitive diagnosis and family planning. Our ISO 15189-accredited laboratory processes samples with 100x mean depth, detecting single nucleotide variants, insertions/deletions, and large copy number changes.
| Feature | Our MBTPS2 NGS Test | Closest Alternative (Sanger Panel) |
|---|---|---|
| Precision | Full-gene coverage, detects CNVs, indels, and splice variants | Limited to hotspot exons, may miss deep intronic mutations |
| Method | Next-Generation Sequencing (NGS) with 100x mean depth | Sanger sequencing of individual amplicons |
| Turnaround Time | 3โ4 Weeks | 5โ6 Weeks |
| Clinical Reporting | ACMG-classified variant interpretation + pedigree correlation | Basic mutation detected/not detected |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
โThe molecular confirmation of IFAP syndrome provides families with a definitive diagnostic label, but it is only one piece of the clinical puzzle โ your childโs daily skin and eye care remain paramount. I urge you never to stop any prescribed emollients, retinoids, or eye protection measures without discussing with your doctor.โ
โ ๏ธ Medication Warning
Do not discontinue prescribed medication without consulting your doctor. Abrupt withdrawal can trigger severe skin flares or photophobia crises.
Safety Exclusion Criteria & Emergency Red Flags
- Uncooperative patient unable to provide informed consent (for minors, legal guardian consent mandatory per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Sample hemolysis or insufficient quantity rejected by lab after collection.
- Emergency red flags: Sudden loss of vision, extreme eye pain, widespread blistering with fever โ seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What does the MBTPS2 gene test detect, and why is it necessary?
The MBTPS2 gene test identifies pathogenic variants causing IFAP syndrome, an X-linked disorder marked by congenital ichthyosis, complete hair loss, and severe light sensitivity. This NGS test is the definitive molecular diagnostic tool to confirm the syndrome, guide management, and offer accurate genetic counselling for affected families.
2. How is the test performed and what sample is required?
A simple blood draw (3โ5 ml) or buccal swab is all that is needed โ our phlebotomist visits your home or office between 8 AM and 11 PM with full cold-chain handling. The sample is processed in our ISO 15189-accredited laboratory using high-depth NGS, with results available in 3โ4 weeks.
3. What does a positive or negative result mean for my childโs future?
A positive MBTPS2 mutation confirms the diagnosis and enables targeted surveillance for corneal erosions and skin infections, and determines female carrier status for the X-linked trait. A negative result does not exclude IFAP syndrome if clinical features are classic, and may prompt whole-exome sequencingโour genetic counsellor will explain the next steps clearly.
4. Is genetic counselling included after the test?
Yes, a telephonic post-test consultation with our Consultant Medical Geneticist is included in the service price. We discuss results, recurrence risks, and available management options. Family screening can also be arranged.
UAE Regulatory & Data Privacy Adherence
Privacy & Compliance
All genetic testing at DNA Labs UAE strictly follows 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. Patient consent for genetic analysis is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. Data is encrypted, stored securely, and never shared without explicit permission. Our laboratory is ISO 9001:2015 certified and fully licensed by the Dubai Health Authority (DHA).
Clinical & Logistical Metadata
| Test Name | MBTPS2 Gene NGS โ IFAP Syndrome Diagnostic Panel |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Blood (3โ5 ml) or Buccal Swab โ VIP Mobile Phlebotomy & Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) โ Whole Exon Coverage with 100x Mean Depth |
| ICD-10-CM Code | Q80.3, Q80.8 |
| LOINC Code | 82235-8 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
Support: +971 54 548 8731
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