Test Price
2,800 AEDโ Home Collection Available
ANK3 Gene Mental Retardation, Autosomal Recessive Type 37 (MRT37) Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Executive Medical Summary
- Diagnostic Accuracy: 99.9% sensitivity using Next-Generation Sequencing (NGS) with bioinformatic alignment to GRCh38 and variant interpretation per ACMG guidelines.
- Logistics Support: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic interpretation and genetic counseling by a Consultant Medical Geneticist.
- Insurance: Direct coverage verification via WhatsApp at +971545488731.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test analyzes the entire coding region of the ANK3 gene to identify pathogenic variants responsible for autosomal recessive mental retardation type 37 (MRT37). It is essential for confirming a clinical diagnosis in patients with unexplained intellectual disability and for providing accurate genetic counseling and family planning.
| Feature | Our Test (ANK3 NGS Panel) โ 2800 AED | Closest Alternative (Single-Gene Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) with bioinformatic alignment to genome reference GRCh38; variant interpretation per ACMG guidelines. | Targeted Sanger sequencing of select exons; limited to known hot-spots. |
| Diagnostic Yield | >95% sensitivity for SNVs and small indels across the entire coding region including exon-intron boundaries. | ~70% if only hot-spot exons are tested; may miss novel or deep intronic variants. |
| Turnaround Time | 3โ4 weeks from sample receipt, with rapid reporting for urgent cases. | 4โ6 weeks, often delayed due to sequential exon analysis. |
| Interpretation Support | Comprehensive clinical report with ACMG classification, inheritance pattern, and genetic counseling recommendations. | May provide only a binary positive/negative result without full genotype-phenotype correlation. |
Physician Insight & Safety Protocols
I, Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), affirm that the ANK3 gene test provides invaluable molecular confirmation for autosomal recessive intellectual disability type 37. However, the result must always be correlated with the patient's developmental milestones, neurological examination, and family history. A negative result does not exclude other genetic or acquired causes of intellectual disability, and a positive finding necessitates comprehensive genetic counselling regarding recurrence risks and available support services. I urge families to discuss all test outcomes with their managing physician to ensure a holistic care plan.
Mandatory Pre-Test Requirement
All individuals undergoing this test must receive a pre-test genetic counseling session to document a detailed three-generation pedigree, assess family history of intellectual disability, and obtain informed consent. This session is critical for accurate test interpretation and is performed by our DHA-licensed clinical geneticists.
Exclusion Criteria & Emergency Red Flags
Who Should Not Proceed Without Prior Physician Clearance:
- Patients with acute febrile illness or uncontrolled infection.
- Individuals unable to provide informed consent (require legal guardian).
- Pregnant women in their first trimester (discuss with obstetrician).
- Recent blood transfusion or bone marrow transplant within 8 weeks.
Seek Immediate Emergency Care If:
- New-onset seizures or loss of consciousness after blood draw.
- Sudden deterioration in neurological status (e.g., unexplained paralysis, vision loss).
- Signs of severe allergic reaction to collection materials.
- Excessive bleeding or hematoma at venipuncture site that does not resolve.
Patient FAQ & Clinical Guidance
1. What is the ANK3 gene and how does it relate to intellectual disability?
Snippet Optimized Answer: ANK3 mutations cause autosomal recessive intellectual disability type 37 with developmental delay and cognitive defects.
The ANK3 gene encodes ankyrin-G, a scaffolding protein critical for anchoring ion channels in neurons. Biallelic pathogenic variants disrupt this protein, leading to impaired brain development and the clinical picture of MRT37, which includes global developmental delay, moderate to severe intellectual disability, and sometimes autistic features or epilepsy. Our NGS test detects these variants with high accuracy, enabling definitive diagnosis and targeted management.
2. Who is eligible for this test and what is the sample requirement?
Snippet Optimized Answer: Individuals with unexplained intellectual disability and parental consanguinity qualify; testing requires a standard blood draw.
The test is recommended for children or adults presenting with developmental delay/intellectual disability of unknown cause, particularly if there is a history of consanguinity or multiple affected family members. Acceptable samples include whole blood (3-5 mL in EDTA tube), extracted DNA, or one drop of blood on an FTA card. A pre-test genetic counseling session is mandatory to review family history and obtain informed consent. Sample collection is available via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection daily from 8 AM to 11 PM.
3. What do positive and negative results mean for my family planning?
Snippet Optimized Answer: A positive ANK3 result confirms recessive inheritance with a 25% recurrence risk for future siblings.
A positive result indicates that the proband carries two pathogenic ANK3 variants (homozygous or compound heterozygous), confirming the diagnosis. For parents who are both carriers, each future pregnancy carries a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and non-carrier. A negative result in the context of strong clinical suspicion may prompt extension to wholeโexome or genome sequencing to identify alternative causes. Post-genetic counseling is essential to interpret recurrence risks and discuss reproductive options in accordance with UAE data protection and healthcare regulations.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
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 genetic data is encrypted and stored on secure servers within UAE jurisdiction. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Data sharing is strictly limited to the patient, the referring physician, and approved genetic counsellors.
Clinical & Logistical Metadata
| Test Name | ANK3 Gene Mental Retardation, Autosomal Recessive Type 37 (MRT37) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks from sample receipt; expedited reporting available for urgent cases |
| Sample Type / Matrix | Whole Blood (3-5 mL EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with GRCh38 alignment; variant interpretation per ACMG guidelines |
| ICD-10-CM Code | F78.8 |
| LOINC Code | 93928-2 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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