Test Price
2,800 AEDโ Home Collection Available
PRSS12 Gene Sequencing Test for Autosomal Recessive Intellectual Disability Type 1
Executive Summary & Core Metrics
This molecular diagnostic test utilizes next-generation sequencing (NGS) to analyze the PRSS12 gene, providing definitive identification of pathogenic variants associated with autosomal recessive intellectual disability type 1 (MRT1). Achieving 99.9% diagnostic sensitivity, results facilitate precise clinical management, carrier screening for at-risk family members, and data-driven reproductive planning. The test is conducted under strict ISO 9001:2015 accredited protocols (Cert: INT/EGQ/2509DA/3139).
- Precision Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Platform.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Interpretation Support from DHA-Licensed Genetic Counsellors.
- Insurance: Direct Billing Verification in Minutes via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The PRSS12 gene encodes for neurotrypsin, a serine protease critical for synaptic plasticity and cognitive development. Pathogenic mutations in this gene disrupt neuronal connectivity, leading to autosomal recessive intellectual disability type 1. Our NGS assay interrogates the complete coding exons and flanking intronic regions of PRSS12, delivering base-level resolution with 99.9% sensitivity and specificity.
| Parameter | Our Test (PRSS12 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% Sensitivity (NGS) | 95โ98% Sensitivity |
| Method | Illuminaยฎ NovaSeqโข NGS Platform | Capillary Electrophoresis |
| Turnaround Time | 3โ4 Weeks | 6โ8 Weeks |
| Regulatory Compliance | ISO 9001:2015, Federal Decree-Law No. 45 of 2021 (PDPL), DHA/MOHAP Standards | Variable |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
โIn my practice, comprehensive genomic investigation is pivotal for families navigating undiagnosed intellectual disability. Identifying a pathogenic PRSS12 variant replaces diagnostic uncertainty with a targeted confirmation, yet this molecular data must be synthesized with a thorough clinical phenotypical evaluation and structured genetic counseling to ensure optimal developmental and psychosocial outcomes for the patient and their support network.โ
Clinical Advisory & Medication Stability
Patients should maintain all existing therapeutic regimens as directed by their treating physician. The results of this genetic test are intended to inform long-term developmental strategies and family planning, not to alter acute pharmacological protocols. Any modifications to prescribed therapy must be reviewed and approved by the managing clinical specialist.
Exclusion Criteria & Emergency Red Flags
- This test is not suitable for individuals who have not undergone formal genetic counselling โ it requires interpretation by a qualified clinical geneticist.
- It must never be used as a standalone diagnostic tool without correlation to clinical phenotype and family history.
- If the patient experiences acute neurological deterioration, loss of developmental milestones, new-onset seizures, or loss of consciousness, do not wait for test results โ proceed to the nearest Emergency Room immediately.
Patient FAQ & Clinical Guidance
1. What is the PRSS12 gene and its role in intellectual disability?
The PRSS12 gene provides instructions for producing neurotrypsin, a protein essential for learning, memory, and synaptic plasticity. Pathogenic variants in this gene disrupt neuronal communication, leading to autosomal recessive intellectual disability type 1 (MRT1), characterized by moderate to severe cognitive impairment. This NGS test identifies these specific mutations to confirm a molecular diagnosis.
2. How is the sample collected for this genetic test?
A standard peripheral whole blood sample is collected by our certified phlebotomist via our VIP Mobile Phlebotomy service. Alternatively, a dried blood spot (DBS) on an FTA card can be utilized for convenient transport. Both collection methods utilize temperature-controlled cold-chain logistics to ensure specimen integrity from your home to our ISO-accredited laboratory in Dubai Healthcare City.
3. What is the turnaround time and what will the report include?
The sequencing and bioinformatics analysis require 3 to 4 weeks. The clinical report includes a detailed interpretation of detected variants, their pathogenicity classification according to ACMG guidelines, and specific recommendations for clinical management, carrier testing for parents, and reproductive options.
4. Is genetic counseling provided with the PRSS12 test?
Yes, pre and post-test genetic counseling by our DHA-licensed genetic counselors is an integral part of this service. Counselors will explain the implications of results, discuss inheritance patterns, coordinate cascade screening for at-risk relatives, and provide psychosocial support to families navigating the diagnosis.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly adheres to the 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 for all diagnostic and genomic data. All genetic sequence data is encrypted, stored on UAE-based secure servers, and processed solely for clinical diagnostic purposes with explicit written patient consent. Our facility operates under DHA License 1143 and maintains ISO 9001:2015 certification for rigorous quality management in molecular diagnostics.
Clinical & Logistical Metadata
| Test Name | PRSS12 Gene Sequencing Test for Autosomal Recessive Intellectual Disability Type 1 |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina NovaSeq Platform |
| ICD-10-CM Code | F79 |
| LOINC Code | 94553-2 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians