Test Price
2,800 AED✅ Home Collection Available
TMEM165 Gene Congenital Disorder of Glycosylation Type 2K NGS Genetic Test in UAE
Executive Summary & Core Metrics
Test: TMEM165 Gene Sequencing for Congenital Disorder of Glycosylation Type 2K (CDG-IIK). Our Next‑Generation Sequencing (NGS) test provides a diagnostic sensitivity exceeding 99.9% for detecting pathogenic variants in the TMEM165 gene, offering a definitive molecular diagnosis for this rare metabolic disorder.
Price
2,800 AED
Turnaround Time
3–4 Weeks
Sample Type
Peripheral Whole Blood (EDTA) or FTA Card
Logistics
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM)
Test Overview & Methodology
This molecular diagnostic test utilizes Next‑Generation Sequencing (Illumina platform) to comprehensively analyze all coding exons and flanking intronic regions of the TMEM165 gene. The test identifies single nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variations (CNVs) responsible for Congenital Disorder of Glycosylation Type 2K (CDG-IIK). CDG-IIK is an autosomal recessive inborn error of metabolism characterized by defective protein glycosylation, leading to developmental delay, intellectual disability, coagulation abnormalities, and variable multisystem involvement. Detection of biallelic pathogenic variants confirms the clinical diagnosis and facilitates targeted management, including genetic counseling and family risk assessment.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Targeted Sanger Sequencing) |
|---|---|---|
| Precision / Diagnostic Yield | 99.9% analytical sensitivity; detects novel & known variants across the entire gene | ~95% sensitivity for known hotspot mutations only; misses rare or deep intronic variants |
| Methodology | Illumina NGS platform, with orthogonal confirmation (ddPCR or Sanger) for variants of uncertain significance | Conventional Sanger sequencing of preselected exons. |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
VUS = Variant of Uncertain Significance; ddPCR = droplet digital PCR.
Physician Insight & Safety Protocols
Insight from Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403). Obtaining a molecular diagnosis for a rare metabolic condition like Congenital Disorder of Glycosylation Type 2K can be a complex and emotional journey. A positive TMEM165 variant is a critical piece of the diagnostic puzzle, but it must be meticulously correlated with the patient's full clinical presentation, biochemical profile (e.g., transferrin isoelectric focusing, serum glycoproteins), and any neuroimaging findings. I strongly advise involving a clinical geneticist and a metabolic specialist in the pre- and post-test counselling process to comprehensively interpret results and guide lifelong management.
Important Medication Advisory
Do not discontinue any prescribed medications (including mannose supplementation, anticonvulsants, anticoagulants, or other supportive therapies) without explicit consultation with your treating physician. Abrupt cessation of certain therapies can precipitate metabolic decompensation or thrombotic events. Always coordinate medication adjustments with your specialist.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active systemic infection at the intended phlebotomy site, known coagulopathy with INR greater than 2.0, inability to provide informed consent (minors require dual parental consent as per UAE Federal Law), or a patient currently on high-dose anticoagulation therapy without medical clearance.
- Emergency Red Flags (Seek immediate emergency medical attention – do not wait for genetic results): Acute neurological deterioration (e.g., altered consciousness, focal deficits), unexplained prolonged bleeding, new-onset seizures, severe hypoglycemia, or signs suggestive of acute liver failure (e.g., jaundice, abdominal distension).
Patient FAQ & Clinical Guidance
1. What is the TMEM165 gene CDG type 2K NGS test?
This advanced Next‑Generation Sequencing (NGS) test comprehensively analyzes the TMEM165 gene to detect pathogenic mutations responsible for Congenital Disorder of Glycosylation type 2K (CDG-IIK). It provides a definitive molecular diagnosis by identifying single nucleotide changes, small insertions or deletions, and copy number variations, which supports lifelong clinical management, prognosis, and informed family risk assessment.
2. How should I prepare for the blood collection, and what are the sample requirements?
No fasting is required for this test. Our skilled phlebotomist will collect a sample during a scheduled home visit: either 4 mL of peripheral whole blood in an EDTA tube or a single dried blood spot on an FTA card. Alternatively, previously extracted DNA may be acceptable if it meets our quality control standards. Please maintain good hydration. A mandatory pre-test genetic counseling session, including the completion of a detailed family pedigree, is required under UAE health regulations.
3. Is this test covered by my UAE health insurance, and how can I verify my coverage?
Many UAE insurance policies provide coverage for medically indicated genetic tests, particularly for diagnosing congenital metabolic disorders. However, individual policy benefits vary. For a free and direct verification of your specific insurance coverage, please send a clear copy of your insurance card via WhatsApp to +971 54 548 8731. Our team will confirm your eligibility and handle the prior approval process on your behalf, typically within 2 business hours.
UAE Regulatory & Data Privacy Adherence
Commitment to Data Protection & Regulatory Compliance
DNA Labs UAE operates in full compliance with all relevant UAE federal laws and regulations governing the handling of genomic data and patient information.
- Personal Data Protection: All personal and genetic data is processed and stored in strict adherence to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Data Integrity: The use of information and communication technology in our diagnostic processes is governed by Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Patient Consent & Safety: All clinical procedures, including genetic testing and sample collection, are conducted with informed consent and in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our facility adheres to rigorous international standards, including ISO 9001:2015 certification, to ensure data security, quality, and patient confidentiality at all stages of the diagnostic workflow.
Clinical & Logistical Metadata
| Test Name | TMEM165 Gene Congenital Disorder of Glycosylation Type 2K NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) or FTA Card. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM). |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform, with orthogonal confirmation (ddPCR or Sanger) for Variants of Uncertain Significance (VUS). |
| ICD-10-CM Code | E77.8 |
| LOINC Code | 81799-6 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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