Test Price
2,800 AED✅ Home Collection Available
MCPH1 Gene Microcephaly, Autosomal Recessive Type 1 Genetic Test in UAE | AED 2,800 | DHA Licensed & ISO Accredited
Executive Summary & Core Metrics
✅ Accuracy Guarantee – 99.9% Diagnostic Sensitivity via ISO 15189-Accredited NGS Processing
🏠 Premium Logistics – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (8 AM–11 PM)
📞 Clinical Guidance – Telephonic Post-Test Genetic Counselling & Report Interpretation included
💳 Insurance – Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The MCPH1 Gene Microcephaly, Autosomal Recessive Type 1 Genetic Test is a targeted next‑generation sequencing assay that detects pathogenic variants in the MCPH1 gene, the primary cause of autosomal recessive primary microcephaly type 1. By analysing the full coding sequence and splice‑site regions, this test delivers a definitive molecular diagnosis for affected children, supports clinical management, and provides essential information for parental carrier screening and reproductive planning.
| Feature | Our MCPH1 NGS Test | Alternative (WES / CMA) |
|---|---|---|
| Method | High‑depth, single‑gene Next‑Generation Sequencing (NGS) with copy‑number analysis | Whole Exome Sequencing (WES) or Chromosomal Microarray – broad but lower per‑gene resolution |
| Precision for MCPH1 | >99.9% analytical sensitivity for SNVs and small indels in MCPH1 coding regions | Variable; may miss deep‑intronic or low‑level mosaic variants specific to MCPH1 |
| Turnaround Time | 3‑4 Weeks | 6‑10 Weeks (WES); 2‑4 Weeks (CMA) |
| Cost | AED 2,800 | AED 8,500‑12,500 (WES); AED 3,000‑5,000 (CMA) |
Physician Insight & Safety Protocols
The MCPH1 gene test provides a definitive molecular diagnosis for families affected by primary microcephaly. It is crucial to integrate genetic results with clinical and imaging findings. Pre- and post-test counselling is essential to address inheritance patterns and family planning options. This test is a powerful tool but must be used within a comprehensive clinical assessment.
– Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403)
Pre-Test Advisory
⚠️ Medication & Pre-Test Warning
Do not discontinue any prescribed medication or supplement without consulting your doctor. For genetic testing, no dietary or pharmacological restrictions apply; however, DNA sample quality is critical – avoid contamination with heparin or gel‑separator tubes if collecting whole blood.
Exclusion Criteria & Emergency Red Flags
- Specimens with gross haemolysis, insufficient volume (<1 mL whole blood), or improper FTA card saturation will be rejected.
- This test cannot detect somatic mosaicism below 10% variant allele frequency or large structural rearrangements beyond the MCPH1 locus.
- Do not use as an emergency screening in acute neonatal deterioration – standard neuroimaging (MRI/CT) and metabolic work‑up take precedence.
- If the patient experiences progressive hypotonia, refractory seizures, or signs of increased intracranial pressure, seek immediate hospital care; this test does not replace urgent clinical evaluation.
Patient FAQ & Clinical Guidance
1. What does the MCPH1 NGS test detect and how quickly are results ready?
This identifies sequence variants and small deletions/duplications in the entire coding region of the MCPH1 gene with a turnaround time of 3 to 4 weeks from sample receipt. The targeted NGS approach provides the highest diagnostic yield for autosomal recessive primary microcephaly type 1, enabling families to receive a confirmed molecular diagnosis and begin guided clinical management promptly.
2. Is a blood sample from the child sufficient, or do parents also need to be tested?
For an initial diagnosis, testing the affected child’s DNA (blood, extracted DNA, or FTA card) is sufficient to identify biallelic MCPH1 variants; parental samples may be requested at no extra cost to confirm carrier status and segregation. Understanding parental carrier status is essential for accurate genetic counselling and reproductive planning, especially in consanguineous families common in the UAE.
3. How does home sample collection work and is my data protected under UAE law?
A DHA‑licensed phlebotomist will visit your home between 8 AM and 11 PM in a fully equipped, cold‑chain‑enabled vehicle. All genetic data is encrypted and handled strictly according to 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, ensuring absolute confidentiality. Our facility adheres to international quality standards, and the genetic counselling session before and after testing further safeguards your family’s privacy and informed consent.
UAE Regulatory & Data Privacy Adherence
This test is performed at DNA Labs UAE, a DHA-licensed facility (License No. 1143). All genetic data is processed 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. Your privacy and informed consent are protected under UAE legislation. We maintain strict confidentiality and data security protocols throughout the diagnostic pathway.
Clinical & Logistical Metadata
| Test Name | MCPH1 Gene Microcephaly, Autosomal Recessive Type 1 Genetic Test (NGS) |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3‑4 Weeks |
| Sample Type / Matrix | Whole Blood (3‑5 mL EDTA) or Buccal Swab or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with copy-number analysis |
| ICD-10-CM Code | Q02 |
| LOINC Code | 21635-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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