Test Price
2,800 AED✅ Home Collection Available
STIL Gene Autosomal Recessive Primary Microcephaly Type 7 (MCPH7) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Core Metrics: 2800 AED | 21–28 Business Days | 99.9% Diagnostic Sensitivity
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes all coding exons and splice junctions of the STIL gene to detect pathogenic variants causing autosomal recessive primary microcephaly type 7 (MCPH7). MCPH7 presents at birth with a head circumference more than three standard deviations below the mean, often accompanied by moderate to severe intellectual disability. The assay employs Illumina NovaSeq NGS with orthogonal Sanger confirmation for all clinically actionable variants.
Methodology & Nomenclature
Test performed using Next Generation Sequencing (NGS) on DNA extracted from whole blood or FTA card. All variants reported according to the HGVS nomenclature, aligned to GRCh38/hg38. Deletion/duplication analysis included via CNV caller. Analytical sensitivity exceeds 99.9% for single nucleotide variants and small indels.
| Feature | Our Test (STIL Gene NGS) | Closest Alternative |
|---|---|---|
| Precision | Full gene sequencing with copy number variant detection | Targeted mutation panel (limited to founder variants) |
| Method | Illumina NovaSeq NGS with Sanger confirmation | Capillary sequencing of selected exons |
| Speed | 21–28 Business Days (3–4 Weeks) definitive report | 6–8 Weeks for comparable coverage |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I recognise the profound uncertainty families face when primary microcephaly is suspected. This NGS-based test provides definitive molecular confirmation for MCPH7, yet results must always be interpreted alongside the full clinical picture, including developmental milestones and neurological assessment. I strongly advise every family to complete pre- and post-test genetic counselling to fully understand the implications of detected variants.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do Not Discontinue Prescribed Medication Without Consulting Your Doctor
This genetic test does not replace ongoing clinical management. Any adjustments to anticonvulsants, feeding regimens, or developmental therapies must be directed by the treating paediatrician or neurologist.
Safety & Exclusion Criteria
- Exclusion: This test is not designed for prenatal diagnosis without concurrent amniocentesis or chorionic villus sampling.
- Exclusion: Not indicated for acquired microcephaly due to infections (e.g., congenital CMV) or teratogens; a clinical workup should precede genetic testing.
- Red Flag: Seek immediate medical attention if the child develops acute onset of seizures, loss of previously acquired milestones, or signs of raised intracranial pressure (persistent vomiting, bulging fontanelle, downward gaze).
- Requirement: Pre-test genetic counselling session is mandatory to draw a pedigree chart of family members affected by STIL gene microcephaly and to review the clinical history.
Patient FAQ & Clinical Guidance
1. What is the STIL gene test and what condition does it diagnose?
This test analyses the STIL gene to confirm autosomal recessive primary microcephaly type 7 (MCPH7), a neurodevelopmental disorder present at birth with a significantly small head circumference and intellectual disability.
2. How accurate is the NGS STIL gene test?
With 99.9% diagnostic sensitivity for single nucleotide variants and small insertions/deletions, the test delivers gold-standard accuracy when performed on a proper specimen.
3. Who should consider this test and is home collection available?
Infants with congenital microcephaly, children with unexplained intellectual disability, and siblings of a confirmed MCPH7 case should be tested. VIP mobile phlebotomy is available daily from 8 AM to 11 PM via temperature-controlled cold-chain logistics.
4. What sample is required and how is it collected?
A standard peripheral whole blood sample (3–5 mL in EDTA tube) or an FTA card dried blood spot is required. Collection is performed by our trained phlebotomist at your home or at our Dubai Healthcare City facility.
5. How long does it take to get results and how will I receive them?
The definitive report is issued within 21–28 business days. Results are delivered via secure electronic portal, followed by a telephonic post-test clinical guidance session with a genetic counsellor. For immediate booking or genetic counselling, WhatsApp +971 54 548 8731 – support available daily.
UAE Regulatory & Data Privacy Adherence
This diagnostic service fully complies 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. All genetic sequence data is stored within UAE sovereign cloud infrastructure with access restricted to authorised clinical personnel only.
Clinical safety and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every test is performed only after written informed consent and documented pre-test counselling.
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) | DHA Facility License: 1143
Clinical & Logistical Metadata
| Test Name | STIL Gene Autosomal Recessive Primary Microcephaly Type 7 (MCPH7) Genetic Test – Full NGS Analysis |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21–28 Business Days (3–4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card (Dried Blood Spot) |
| Methodology Used | Next Generation Sequencing (Illumina NovaSeq) with Sanger Confirmation and CNV Analysis |
| ICD-10-CM Code | Q02 (Microcephaly), Z13.79 (Encounter for screening for genetic and chromosomal anomalies), Z82.71 (Family history of congenital malformations) |
| LOINC Code | 79714-0 (STIL gene full sequence analysis) |
| 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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