Test Price
2,800 AED✅ Home Collection Available
BHLHA9 Gene Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
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, available 8 AM – 11 PM daily across UAE.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation with a DHA-licensed genetic specialist.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731 before sample collection.
Test Overview & Methodology
This state-of-the-art Genetic Test comprehensively sequences the BHLHA9 gene to diagnose mesoaxial synostotic syndactyly with phalangeal reduction, a rare autosomal recessive limb malformation syndrome. The analysis identifies pathogenic single nucleotide variants, small insertions/deletions, and copy number changes, delivered in a 3–4 week turnaround from whole blood, extracted DNA, or a single-drop blood FTA card.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | >99.9% diagnostic sensitivity for coding & splice-site variants | Limited to pre-selected regions; may miss deep intronic or copy number changes |
| Method | Next-Generation Sequencing (NGS) with bioinformatically validated variant calling | Capillary (Sanger) sequencing of exons only |
| Turnaround | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
“A clinical diagnosis of syndactyly with mesoaxial synostosis and phalangeal reduction is often the first clue, but only a genetic test confirms the underlying BHLHA9 mutation. We strongly advise pairing this test with a board-certified genetic counselling session to interpret the results and discuss recurrence risks. Timely diagnosis can guide surgical planning and family decision-making.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor; this test does not replace ongoing clinical management. Always consult your physician before making changes to your treatment plan.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Inability to provide a viable blood, extracted DNA, or FTA card sample; uncooperative patient without appropriate sedation protocol for pediatric home collection.
- ER Red Flag: If the child experiences sudden respiratory distress, cyanosis, severe feeding difficulties, or acute limb ischemia, skip the test and proceed directly to emergency medical evaluation.
- Warning: A negative or inconclusive result does not rule out other genetic or environmental causes; please schedule follow-up with a clinical geneticist.
Patient FAQ & Clinical Guidance
1. What exactly does the BHLHA9 NGS test detect?
This test identifies pathogenic mutations in the BHLHA9 gene causing mesoaxial synostotic syndactyly with phalangeal reduction, enabling definitive molecular diagnosis. The analysis covers all coding regions and splice sites with high confidence.
2. How is the sample collected, and is it painful for children?
Collection uses a quick finger-prick or venipuncture by a trained pediatric phlebotomist; an FTA card option requires only one drop, minimizing discomfort. The VIP Mobile Phlebotomy service brings this to your home with temperature-controlled transport.
3. Do I need genetic counselling before taking this test?
Yes, a pre-test genetic counselling session is mandatory to understand the implications, draw a pedigree, and comply with UAE genetic testing regulations. Our team can schedule this for you at no additional cost.
4. How long does it take to get results, and how are they delivered?
Results are available within 3–4 weeks from sample receipt. You will receive a detailed molecular report via secure electronic delivery, followed by a telephonic consultation with a genetic specialist to explain the findings.
5. Is this test covered by insurance in the UAE?
Coverage varies by provider. We recommend sending your policy details via WhatsApp at +971 54 548 8731 for a direct billing verification before sample collection. Many comprehensive plans include genetic testing for rare diseases.
UAE Regulatory & Data Privacy Adherence
This laboratory operates under DHA Facility License Number 1143 and adheres to 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 genetic testing is performed with explicit consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
For home collection booking & insurance billing: WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | BHLHA9 Gene Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Bioinformatically Validated Variant Calling |
| ICD-10-CM Code | Q87.2 |
| LOINC Code | 94228-7 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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