Test Price
2,800 AEDโ Home Collection Available
IDH1 Gene Genetic Test for Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria in UAE | 2800 AED
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Laboratory (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary telephonic post-test interpretation by DHA-licensed Consultant Medical Genetics.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The IDH1 gene NGS test comprehensively sequences the entire coding region and splice sites to detect pathogenic variants linked to metaphyseal chondromatosis and D-2-hydroxyglutaric aciduria, a rare metabolic bone dysplasia syndrome. This full-gene analysis captures all clinically relevant variants including missense, nonsense, frameshift, splice-site, and deep intronic mutations that may be missed by limited hotspot panels.
| Feature | Our DHA-Accredited NGS Test | Closest Alternative (Hotspot Panel) |
|---|---|---|
| Precision | Full gene coverage + Sanger confirmation | Limited to known hotspot mutations only |
| Method | Next-Generation Sequencing (Illuminaยฎ) | PCR/qPCR-based genotyping |
| Turnaround Time | 3โ4 Weeks | 5โ7 Days (but lower diagnostic yield) |
| Clinical Relevance | All IDH1-related phenotypes including rare variants | May miss novel or private mutations (false negatives) |
Physician Insight & Safety Protocols
Clinical Commentary from Consultant Medical Genetics:
"For patients presenting with characteristic skeletal anomalies โ metaphyseal irregularities, short stature, or enchondroma-like lesions โ combined with biochemical evidence of elevated urinary D-2-hydroxyglutarate, comprehensive IDH1 gene sequencing is the gold-standard confirmatory test. The full-gene NGS approach minimizes false-negative rates associated with targeted mutation panels. A negative result does not exclude all genetic skeletal dysplasias; correlation with radiographic findings and metabolic profiling remains essential. Families should receive pre- and post-test genetic counselling to understand recurrence risks and surveillance protocols."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory & Clinical Correlation
Warning
Do not discontinue any prescribed medication, vitamin, or dietary supplement without explicit approval from your treating physician. Genetic test results must always be interpreted alongside comprehensive clinical evaluation, family history, and relevant biochemical markers. This test is a diagnostic adjunct and does not replace clinical judgment.
Exclusion Criteria & Emergency Red Flags
The following circumstances may preclude standard sample collection or require urgent medical attention independent of test results:
- Inability to provide informed consent (minors require a legal guardian per Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Uncontrolled bleeding disorders or refusal of venipuncture.
- Sample contamination or insufficient DNA quantity for library preparation.
If you develop acute bone pain, pathological fractures, neurological deterioration, or symptoms suggestive of metabolic crisis โ seek immediate medical care. Do not delay emergency treatment while awaiting genetic test results.
Patient FAQ & Clinical Guidance
1. What does the IDH1 gene NGS test detect, and who should consider it?
The IDH1 gene NGS identifies pathogenic DNA variants associated with metaphyseal chondromatosis and D-2-hydroxyglutaric aciduria. It is recommended for individuals with characteristic skeletal anomalies, unexplained elevation of urinary D-2-hydroxyglutarate, or a positive family history suggestive of an autosomal dominant skeletal dysplasia. This test is also indicated when whole-exome or genome sequencing has not been performed but clinical suspicion is high.
2. How is the sample collected, and is home collection available across the UAE?
A standard peripheral blood sample (2โ5 mL in EDTA tube) is collected via our VIP Mobile Phlebotomy service. Temperature-controlled cold-chain home collection is available daily from 8 AM to 11 PM across all seven emirates. For patients preferring non-blood alternatives, a buccal swab or pre-extracted DNA can be accepted. All samples are transported under ISO-compliant chain-of-custody protocols to our CAP-accredited laboratory in Dubai Healthcare City.
3. What does the result mean, and will I receive genetic counselling?
A positive result confirms the presence of a pathogenic IDH1 variant, enabling targeted clinical management, family cascade screening, and surveillance planning. A negative result reduces but does not eliminate the possibility of an underlying genetic skeletal disorder; alternative diagnoses should be explored through radiological and metabolic correlation. Every patient receives a complimentary telephone-based post-test counselling session with a DHA-licensed Consultant Medical Genetics specialist to discuss implications and next steps.
4. How long does it take to receive results, and how are they delivered?
The standard turnaround time for full-gene NGS sequencing with Sanger confirmation is 3โ4 weeks from sample receipt. Results are delivered via a secure, encrypted PDF report sent directly to your registered email and mobile number. A hard copy can be couriered upon request. Urgent preliminary results may be available within 10โ14 business days for critical clinical decisions.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to all applicable UAE federal laws governing medical testing, data privacy, and health information security. Your personal and genetic data are processed in strict compliance with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ ensuring lawful collection, processing, storage, and transfer of your genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ governing electronic health records and telemedicine consultations.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ regulating informed consent, clinical safety, and patient rights during diagnostic procedures.
All genetic reports are encrypted end-to-end, access is restricted to authorized clinicians only, and data retention follows the minimum necessary standard. You have the right to access, correct, or request deletion of your data in accordance with PDPL Article 9.
Clinical & Logistical Metadata
| Test Name | IDH1 Gene Sequencing (Next-Generation Sequencing) for Metaphyseal Chondromatosis & D-2-Hydroxyglutaric Aciduria |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (21โ28 calendar days) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Buccal Swab, or Pre-Extracted DNA (minimum 500 ng) |
| Methodology Used | Next-Generation Sequencing (Illuminaยฎ) with Sanger Confirmation of all pathogenic/likely pathogenic variants |
| ICD-10-CM Code | Q78.8, E72.5 |
| LOINC Code | 92769-6 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
ุฏุนู ุซูุงุฆู ุงููุบุฉ ู ุชุงุญ
ุงูุชุญูู ู ู ุงูุชุบุทูุฉ ุงูุชุฃู ูููุฉ
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.
ุชููู ุนู ุงูุชุฎู ูู. ุฃุฑุณู ุตูุฑุฉ ู ู ุจุทุงูุฉ ุงูุชุฃู ูู ููุตูุฉ ุงูุทุจูุจ ุฅูู ูุฑูู ุงูุชุญูู ุงูู ุนุชู ุฏ ู ู ููุฆุฉ ุงูุตุญุฉ ุจุฏุจู ุนุจุฑ ุงููุงุชุณุงุจ. ุงุญุตู ุนูู ุชุญุฏูุซ ุงูุญุงูุฉ ูู ุฏูุงุฆู.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians