Test Price
2,800 AED✅ Home Collection Available
NTRK1 Gene HSAN4 Genetic Test in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
The NTRK1 Gene HSAN4 Genetic Test delivers comprehensive analysis of the NTRK1 gene using Next-Generation Sequencing (NGS) technology. This test detects pathogenic variants responsible for Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN4), a rare autosomal recessive disorder presenting with congenital insensitivity to pain and anhidrosis. Clinical sensitivity exceeds 99.9% through full exonic and flanking intronic region coverage performed at our ISO 9001:2015 accredited facility (Cert: INT/EGQ/2509DA/3139). The complete service includes genetics consultation before and after testing, with results delivered within 3–4 weeks at a flat rate of 2,800 AED inclusive of all laboratory processing and professional interpretation.
- ✓ Clinical Accuracy: 99.9% diagnostic sensitivity verified through dual-platform confirmation (NGS + Sanger sequencing).
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM.
- ✓ Clinical Guidance: DHA-licensed Consultant Medical Genetics provides post-result telephonic interpretation and counselling.
- ✓ Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This molecular diagnostic assay sequences the entire coding region and conserved splice sites of the NTRK1 gene on chromosome 1q23.1. Pathogenic loss-of-function mutations in NTRK1 disrupt nerve growth factor (NGF) signalling, leading to the clinical phenotype of pain insensitivity and anhidrosis characteristic of HSAN4. Our NGS panel interrogates all 17 exons plus 50 base pairs of flanking intronic sequence, detecting single nucleotide variants, small insertions/deletions, and canonical splice-site alterations with 99.9% sensitivity and specificity. Confirmation of all clinically significant variants is performed via bidirectional Sanger sequencing to eliminate false positives. A detailed clinical report integrates variant classification following ACMG/AMP guidelines and provides carrier status information for family cascade screening.
| Feature | Our NGS Comprehensive Test | Standard Sanger Sequencing |
|---|---|---|
| Detectable Variants | SNVs, indels, splice-site variants across all exons | Limited to pre-selected hotspot regions |
| Clinical Sensitivity | ~99.9% (full gene coverage with confirmation) | ~70–85% (targeted only) |
| Turnaround Time | 3–4 weeks (21–28 calendar days) | 4–6 weeks (28–42 calendar days) |
| Cost (AED) | 2,800 AED (flat-rate, all inclusive) | Not routinely offered in UAE; higher per-exon cost |
Physician Insight & Safety Protocols
“A molecular diagnosis of HSAN4 via NTRK1 sequencing provides definitive confirmation for a condition that is frequently misdiagnosed in early childhood. I recommend that all positive results be correlated with autonomic function testing and detailed neurological examination. Equally important, a negative result does not exclude other hereditary sensory and autonomic neuropathies; complementary gene panels should be considered when clinical suspicion remains high. Pre-test and post-test genetic counselling ensures patients and families fully understand recurrence risks and reproductive options.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory & Precautions
⚠ Important Clinical Advisory
This genetic test result must never be used as the sole basis for altering prescribed therapies or management plans. All clinical decisions require correlation with physical examination findings, autonomic testing results, and multidisciplinary specialist input. Do not discontinue any prescribed medication or initiate new treatment without direct consultation with your treating physician. The test identifies germline variants and does not assess acquired somatic changes or medication metabolism capacity.
Exclusion Criteria & Emergency Red Flags
Test Exclusion Criteria
- Patients unable to provide a venous blood sample or with severe coagulation disorders contraindicating phlebotomy.
- Recipients of allogeneic bone marrow transplantation (peripheral blood may reflect donor germline DNA, not patient).
- Individuals who have not completed pre-test genetic counselling (mandatory per UAE regulations for minors and reproductive decision-making).
🚨 Seek Emergency Care If:
- Core body temperature exceeds 39°C with absent sweating, suggesting impending anhidrosis-related hyperthermia crisis.
- Painless fractures, joint injuries, or burns that go unnoticed due to complete pain insensitivity, particularly in children.
- Corneal abrasions, foreign bodies, or ulcerations presenting without discomfort, risking permanent visual impairment.
Patient FAQ & Clinical Guidance
1. What is the NTRK1 gene HSAN4 test and why is it performed?
This molecular genetic test analyses the entire coding sequence of the NTRK1 gene using a venous blood sample to identify mutations responsible for Hereditary Sensory and Autonomic Neuropathy Type IV. Early genetic confirmation enables proactive injury prevention, thermoregulation management, and family planning decisions. The test is indicated for individuals with congenital insensitivity to pain, recurrent unexplained injuries, absent sweating with episodic hyperthermia, or a positive family history of HSAN4.
2. What preparations are required before the test?
No fasting, medication adjustments, or special dietary preparations are necessary before sample collection. You may continue all prescribed medications as directed by your physician. A mandatory pre-test genetic counselling session will be scheduled to review the testing process, interpret potential outcomes, and document informed consent. The blood draw itself takes approximately 10 minutes and can be performed at your home through our VIP Mobile Phlebotomy service or at our Dubai Healthcare City laboratory facility.
3. How are the results interpreted and what are the next steps?
A positive result confirms the presence of pathogenic NTRK1 mutations diagnostic of HSAN4. A negative result significantly reduces the likelihood of this specific condition but does not exclude other hereditary sensory and autonomic neuropathies; additional gene panel testing may be recommended. All results are reviewed by our Consultant Medical Genetics during a structured post-test teleconsultation. A comprehensive multidisciplinary care plan involving neurology, orthopaedics, ophthalmology, and pain management specialists will be coordinated for confirmed cases, alongside reproductive genetic counselling for at-risk family members.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security Framework: All patient genetic data is processed and stored in full compliance with 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. Clinical testing safety, informed consent, and medical liability standards adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory operates under DHA Facility License No. 1143 and maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). All genetic counselling sessions and result disclosures are conducted by DHA-licensed practitioners in secure, confidential settings. Specimens are transported using ISO-compliant cold-chain logistics with end-to-end chain-of-custody documentation.
Clinical & Logistical Metadata
| Test Name | NTRK1 Gene Full Sequencing (HSAN4) – NGS Comprehensive Panel |
| Price (AED) | 2,800 AED (flat-rate, inclusive of genetic counselling and clinical report) |
| Turnaround Time | 3–4 weeks (21–28 calendar days from sample receipt) |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA lavender-top tube); alternate sample types accepted upon prior arrangement |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform with bidirectional Sanger confirmation of all clinically significant variants |
| ICD-10-CM Code | G60.8 – Other hereditary and idiopathic neuropathies; G90.0 – Idiopathic peripheral autonomic neuropathy (additional) |
| LOINC Code | 21647-5 – Gene mutations tested for in Blood or Tissue by Molecular genetics method |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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