Test Price
2,800 AED✅ Home Collection Available
KPTN Gene Intellectual Disability (MRD41) Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
This ISO 9001:2015 certified NGS test delivers 99.9% diagnostic sensitivity for KPTN-related autosomal recessive intellectual disability (MRD41). Results are returned within 3–4 weeks with DHA‑compliant home blood collection (8 AM‑11 PM) and direct insurance billing verification via WhatsApp +971 54 548 8731. Post‑test clinical guidance is included.
Test Overview & Methodology
The KPTN gene test screens for pathogenic variants causing autosomal recessive intellectual disability type 41 (MRD41) using next‑generation sequencing. It provides definitive molecular diagnosis for patients with developmental delay, macrocephaly, and distinct facial features.
| Feature | Our Test – KPTN NGS | Closest Alternative – Chromosomal Microarray |
|---|---|---|
| Methodology | Full gene sequencing (NGS) | Genome-wide copy number analysis |
| Target | Point mutations, small indels in KPTN | Large deletions/duplications only |
| Diagnostic Sensitivity | >99.9% for coding region | ~15-20% in intellectual disability (no point mutations) |
| Reporting Time | 3–4 Weeks | 2–4 Weeks |
| UAE Regulatory | DHA‑licensed, ISO 9001:2015 certified | Varies by provider |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I understand the emotional journey families face when seeking answers for unexplained developmental delays. This KPTN NGS test offers a precise molecular diagnosis, yet results must always be interpreted within the full clinical context and family history. Genetic counselling is recommended to discuss implications and next steps.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Important Clinical Advisory
Do not discontinue any prescribed antiepileptic, behavioural, or other medication based on this test result. Clinical correlation is mandatory. Always consult your treating physician before making any therapeutic changes.
🚨 Exclusion Criteria & Emergency Flags
- Exclusion: Inability to provide informed consent (legally authorised guardian for minors). Acute febrile illness or active systemic infection at time of home collection – collection will be rescheduled.
- Exclusion: Known coagulopathy or severe thrombocytopenia unless cleared by treating specialist.
- ER Red Flags: Sudden loss of consciousness, uncontrolled seizures, respiratory distress, or any acute neurological deterioration – proceed to nearest emergency department immediately and inform attending physician about pending genetic test.
Patient FAQ & Clinical Guidance
1. What does the KPTN gene test detect?
The KPTN gene test identifies harmful mutations in the KPTN gene responsible for autosomal recessive intellectual disability type 41 (MRD41). This disorder typically presents with global developmental delay, macrocephaly, characteristic facial dysmorphism, and structural brain anomalies visible on MRI.
2. How is the sample collected, and how long do results take?
A simple blood sample or an FTA card spot is collected during a paid, DHA‑licensed home phlebotomy visit. Using ISO‑certified cold‑chain logistics, samples are processed via NGS. Results are issued within 3 to 4 weeks, with optional telephonic clinical guidance included.
3. Is this test covered by UAE health insurance?
Most UAE insurers reimburse medically necessary genetic testing for intellectual disability. Direct verification of your policy’s coverage can be completed within minutes through WhatsApp at +971 54 548 8731 before scheduling the test.
UAE Regulatory & Data Privacy Adherence
Compliance with UAE Law
This test is performed 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. Patient data is encrypted and handled in accordance with DHA regulations. Clinical safety and informed consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | KPTN Gene Intellectual Disability (MRD41) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood or FTA card spot |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | F78.9, F70 |
| LOINC Code | 82939-0 |
| DHA Facility License & Address | License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians