Test Price
2,800 AED✅ Home Collection Available
PMP22 Gene (HNPP) Next‑Generation Sequencing (NGS) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Test Overview & Methodology
The PMP22 Gene HNPP Genetic Test is a comprehensive next‑generation sequencing assay that identifies pathogenic variants in the PMP22 gene responsible for Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). This advanced analysis surpasses standard deletion/duplication tests by detecting single nucleotide changes, small insertions/deletions, and copy number variations, providing a definitive diagnosis for at‑risk individuals and families.
| Feature | Our PMP22 NGS Test | Typical MLPA / Deletion‑Only Test |
|---|---|---|
| Precision | Analyzes full coding region, exon‑intron boundaries, and copy number variants (CNVs) | Detects only PMP22 deletions/duplications (common HNPP deletion) |
| Method | Next‑Generation Sequencing (NGS) with bioinformatic CNV calling | Multiplex Ligation‑dependent Probe Amplification (MLPA) |
| Turnaround Time | 3–4 weeks | 2 weeks |
| Clinical Actionability | Uncovers point mutations, small indels, and atypical rearrangements missed by MLPA | Limited to gross deletion; may miss ~10% of HNPP‑causing variants |
| Regulatory Status | DHA‑compliant, ISO 9001:2015 | May lack full chain‑of‑custody certification |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (DHA: 9294403), Consultant Medical Genetics, emphasizes that comprehensive PMP22 sequencing provides critical information for hereditary neuropathy diagnosis. "The NGS approach captures variants beyond common deletions, enabling precise genetic counselling and risk assessment for families. However, results must always be correlated with clinical presentation and electrophysiological findings to ensure accurate interpretation and management."
Pre‑Test Genetic Counseling Advisory
A mandatory pre‑test genetic counseling session is required to construct a detailed pedigree and ensure informed consent. This step is essential for accurate variant interpretation and to discuss implications for family members. Do not discontinue any prescribed medications without consulting your doctor; genetic testing is not a substitute for ongoing neurological management.
Exclusion Criteria & Safety Precautions
- Exclusion Criteria: This test is not indicated for acute nerve compression emergencies or when immediate surgical intervention is required. It is unsuitable for individuals who decline pre‑test genetic counseling.
- Emergency Red Flags: Sudden severe limb weakness, loss of bladder/bowel control, or respiratory difficulty require urgent medical attention and are not addressed by this elective genetic test.
- Pre‑Test Requirements: Completion of a clinical history intake and genetic counseling session is mandatory before sample collection to ensure accurate interpretation and informed consent.
Patient FAQ & Clinical Guidance
1. What does the PMP22 NGS test detect and how is it different from basic genetic screening?
The PMP22 NGS test sequences all coding regions and exon‑intron boundaries of the PMP22 gene to detect pathogenic variants associated with HNPP. Unlike targeted deletion/duplication testing, this comprehensive method captures single nucleotide changes, small insertions/deletions, and copy number variations in a single reaction, offering near‑100% diagnostic yield for families with a clear clinical picture of pressure palsies. Results are interpreted according to ACMG guidelines and a board‑certified geneticist’s review, ensuring that variants of uncertain significance are clearly communicated.
2. Who should consider this test and which specialists typically order it?
Individuals with recurrent painless focal neuropathies, family history of pressure palsies, or genetically undefined hereditary neuropathy should consider this PMP22 NGS test. Neurologists, medical geneticists, and orthopaedic surgeons are the three primary specialists who order HNPP genetic testing to confirm diagnosis, guide occupational adjustments, and plan family health. The test is also recommended for asymptomatic first‑degree relatives when a causative variant is known in the family.
3. How is the sample collected, and what does the 3‑4 week turnaround involve?
A VIP mobile phlebotomist collects 2–3 mL of whole blood in a special DNA preservation tube during an ISO‑certified home visit. The sample travels via controlled cold chain to our partner laboratory, where DNA extraction, library preparation, NGS on an Illumina platform, bioinformatics analysis, and a two‑tier human review by clinical geneticists take place over 18–22 working days. Patients receive a secure digital report and a scheduled telephonic consultation to explain the findings in plain language.
UAE Regulatory & Data Privacy Adherence
Data Protection & Healthcare Compliance
This test is conducted 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 safety and patient consent adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic data is handled with strict confidentiality and security measures to protect patient privacy.
Clinical & Logistical Metadata
| Test Name | PMP22 Gene (HNPP) Next‑Generation Sequencing (NGS) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (2–3 mL in DNA preservation tube) |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV analysis |
| ICD-10-CM Code | G60.8 |
| LOINC Code | 81329-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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