Test Price
2,800 AED✅ Home Collection Available
ANKH Gene Craniometaphyseal Dysplasia Genetic Test in Dubai | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Test Overview & Methodology
The ANKH Gene NGS Test accurately identifies pathogenic mutations in the ANKH gene, the primary cause of Craniometaphyseal Dysplasia (CMD). This rare genetic disorder leads to progressive skull thickening and abnormal long bone modeling. Our next-generation sequencing (NGS) panel provides full coverage of the ANKH coding region and flanking intronic sequences, delivering a definitive molecular diagnosis for affected individuals and at‑risk family members. Early identification supports targeted clinical management and genetic counselling.
| Feature | Our Test – NGS Panel | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) – full gene coverage | Sanger sequencing – limited to known hot‑spots |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Diagnostic Yield | >99% for ANKH coding region | ~92% (misses deep intronic variants) |
| Price (AED) | 2,800 | 3,500 – 3,800 |
Physician Insight & Safety Protocols
“This NGS‑based ANKH analysis offers families a precise molecular answer. However, a negative result does not exclude a clinical diagnosis; it should be correlated with radiological findings and specialized clinical evaluation. I encourage anyone undergoing this test to discuss results with a paediatric geneticist or craniofacial team.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA ID: 9294403
Advisory Information
Pre‑test Information & Sample Requirements
- Provide a comprehensive clinical history of the patient, specifically noting any features of craniometaphyseal dysplasia.
- A genetic counselling session is mandatory to draw a detailed pedigree chart of family members affected by or suspected of having the ANKH gene mutation.
- Sample types accepted: Whole Blood (2–5 mL in EDTA tube), Extracted DNA (minimum 1 µg), or one drop of blood dried on an FTA card. Transport at 2–8°C.
- No specific medication or supplement restrictions required before sample collection; however, maintain prescribed treatments unless advised otherwise by your physician.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Emergency Red Flags
- Not advised for: asymptomatic individuals without a confirmed family history of CMD or without pre‑test genetic counselling.
- Minors: Testing requires written informed consent from the legal guardian, in compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Red flags – seek immediate medical attention: sudden vision loss, intractable headaches, facial numbness, or acute hearing loss. These may indicate raised intracranial pressure and require emergency evaluation.
- If you experience severe anxiety or distress during the testing process, contact our support line at +971 54 548 8731.
Patient FAQ & Clinical Guidance
1. What does the ANKH NGS test detect, and how is it different from a regular X‑ray?
This test identifies disease‑causing changes in the ANKH gene at the DNA level, providing a definitive genetic diagnosis that structural imaging cannot offer. While X‑rays show bone abnormalities, only DNA testing can confirm the underlying genetic cause for precise family counselling and management.
2. I only have a small drop of blood on a card – will that be enough for accurate testing?
Yes, an FTA card with a dried blood spot provides sufficient high‑quality DNA for NGS analysis, with no accuracy compromise. All samples are processed under ISO 9001:2015 certified protocols.
3. How can I verify my insurance covers this and schedule a home visit?
Send your insurance card copy via WhatsApp to +971 54 548 8731; our team will verify coverage and book a VIP phlebotomist within two hours. The mobile phlebotomy service is available daily from 8 AM to 11 PM.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This test operates under the regulatory framework of the Dubai Health Authority (DHA) and adheres to Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient data handling. Health information is processed in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability.
DHA Facility License Number: 1143. Certified ISO 9001:2015 (INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ANKH Gene Craniometaphyseal Dysplasia NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full ANKH Gene Coverage |
| ICD-10-CM Code | Q78.8, Q75.8, Z13.79 |
| LOINC Code | 82810-7 |
| 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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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians