Test Price
2,800 AEDโ Home Collection Available
DYNC2H1 Gene Sequencing for Short-Rib Thoracic Dysplasia Type 3 With or Without Polydactyly in UAE
Diagnostic Accuracy: 99.9% sensitivity for point mutations and small indels via ISO 9001:2015 Certified Next Generation Sequencing (Cert: INT/EGQ/2509DA/3139).
Home Collection: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across Dubai and major UAE cities.
Post-Test Support: Telephonic genetic counselling session with a DHA-licensed Consultant Medical Genetics specialist included in the service.
Insurance Facilitation: Direct billing verification and pre-approval coordination with all major UAE insurers via WhatsApp +971 54 548 8731.
Executive Summary & Core Metrics
The DYNC2H1 gene sequencing test employs full-gene Next Generation Sequencing (NGS) to identify pathogenic variants associated with short-rib thoracic dysplasia type 3 (SRTD3), a rare autosomal recessive skeletal ciliopathy that may present with or without polydactyly. Early molecular confirmation is critical for accurate prognosis, neonatal respiratory management, and informed family planning. This test is performed at DNA Labs UAE, a DHA-licensed facility (License No. 1143) located in Dubai Healthcare City, ensuring compliance with UAE federal healthcare standards.
Test Overview & Methodology
This assay uses targeted NGS to sequence all coding exons, exon-intron boundaries, and select deep intronic regions of the DYNC2H1 gene. The methodology detects single nucleotide variants, small insertions and deletions, and copy number alterations with greater than 99% clinical sensitivity for pathogenic point mutations and small indels. Bioinformatic analysis employs validated pipelines aligned with ACMG/AMP variant interpretation guidelines.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Single-Gene PCR for Known Mutation) |
|---|---|---|
| Detection Scope | All coding regions, splice sites, and deep intronic variants | Only the specific familial mutation(s) |
| Clinical Sensitivity | >99% for point mutations and small indels | 95% if mutation is known; 0% for novel mutations |
| Turnaround Time | 3โ4 Weeks | 2โ3 Weeks |
| Regulatory Standard | ISO 9001:2015, DHA/MOHAP Compliant | May not meet UAE clinical lab requirements |
Physician Insight & Safety Protocols
โDefinitive molecular diagnosis of DYNC2H1-related skeletal dysplasia provides the foundation for accurate recurrence risk assessment and prenatal counselling. This NGS assay captures the full mutational spectrum across the gene, enabling robust variant detection that must be interpreted alongside prenatal ultrasound findings and postnatal skeletal surveys. Early genetic confirmation facilitates coordinated care between neonatology, clinical genetics, and paediatric pulmonology teams.โ
โ Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medical Advisory
Continued Clinical Care
Maintain all prescribed respiratory therapies, nutritional support, and multidisciplinary follow-up as directed by your treating neonatologist or paediatric pulmonologist. This genetic test provides diagnostic information and does not replace or modify any aspect of your childโs active clinical management protocol. Discuss all results with your primary physician before making treatment decisions.
Contraindications & Urgent Clinical Scenarios
Exclusion Criteria & Emergency Red Flags
- Insufficient sample volume: minimum 1 mL whole blood or buccal swab required for reliable NGS library preparation.
- Mandatory pre-test genetic counselling session per Federal Decree-Law No. 4 of 2016 on Medical Liability prior to specimen collection.
- Acute clinical instability such as severe respiratory distress requiring immediate hospitalisation; stabilisation must precede sample collection.
- Emergency Warning: If the infant exhibits rapid breathing, cyanosis, chest wall retractions, or oxygen desaturation, seek emergency medical care immediately. Prioritise stabilisation over genetic testing.
Patient FAQ & Clinical Guidance
1. What does the DYNC2H1 gene test detect?
This test identifies pathogenic mutations in the DYNC2H1 gene that cause short-rib thoracic dysplasia type 3 with or without polydactyly. The NGS analysis screens all coding exons and splice junctions for single nucleotide variants, small insertions and deletions, and copy number changes affecting the DYNC2H1 protein required for primary cilia function. A definitive molecular result enables accurate diagnosis, prognosis estimation, and recurrence risk counselling for at-risk couples.
2. How is the specimen collected for this genetic test?
A peripheral whole blood sample or buccal swab is collected by a DHA-licensed phlebotomist during a scheduled home visit. For neonates and infants, a heel-stick capillary sample or buccal brush collection is available. All specimens are transported in a temperature-controlled cold-chain kit to the ISO 9001:2015 certified laboratory at DNA Labs UAE in Dubai Healthcare City. Results are delivered within three to four weeks.
3. What is the turnaround time and how will I receive my results?
Results are typically available within three to four weeks from sample receipt. You will receive a secure digital report through our online patient portal, followed by a telephonic consultation with a DHA-licensed Consultant Medical Genetics specialist who will explain the findings, clinical implications, and recommended next steps for your paediatrician or neonatologist. A printed copy is available upon request.
4. Is pre-test genetic counselling mandatory before this test?
Yes. Federal Decree-Law No. 4 of 2016 on Medical Liability mandates that all genetic testing in the UAE be preceded by formal genetic counselling. Our team includes a qualified genetics counsellor who will conduct the session via telemedicine or in person at our Dubai Healthcare City facility. This ensures that you fully understand the purpose, limitations, and potential implications of the test before providing informed consent.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE complies fully with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), which governs the collection, processing, storage, and transfer of personal health information. All genetic data is encrypted in transit and at rest, with access restricted to authorised clinical personnel only.
Furthermore, the laboratory adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring that all digital health records, telemedicine consultations, and electronic reporting systems meet the UAEโs stringent cybersecurity and data sovereignty requirements.
The facility operates under DHA Facility License No. 1143 and is subject to routine inspection by the Dubai Health Authority and the Ministry of Health and Prevention to maintain compliance with UAE clinical laboratory standards.
Clinical & Logistical Metadata
| Test Name | DYNC2H1 Gene Sequencing for Short-Rib Thoracic Dysplasia Type 3 |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (peripheral) or Buccal Swab |
| Methodology Used | Next Generation Sequencing (NGS) โ Full Gene Sequencing |
| ICD-10-CM Code | Q77.2 |
| LOINC Code | 94854-3 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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