Test Price
2,800 AED✅ Home Collection Available
6q24‑Related Transient Neonatal Diabetes Mellitus Type 1 (TNDM) Genetic Test in UAE | 2 800 AED
Executive Summary & Core Metrics
Executive Summary: This definitive Next‑Generation Sequencing (NGS) test accurately diagnoses paternal uniparental disomy of chromosome 6 (UPD(6)pat), the most common cause of 6q24‑related Transient Neonatal Diabetes Mellitus Type 1. Performed in our ISO‑certified genetics laboratory at DNA Labs UAE, it delivers 99.9% diagnostic sensitivity and guides precise insulin management and genetic counselling. VIP mobile phlebotomy with hospital‑grade cold‑chain logistics, instant insurance verification via WhatsApp, and post‑test tele‑guidance by a DHA‑licensed Consultant Medical Geneticist ensure a seamless, family‑focused experience across the UAE.
Test Overview & Methodology
This NGS‑based genetic test detects paternal uniparental disomy of chromosome 6 (UPD(6)pat), the hallmark of 6q24‑related Transient Neonatal Diabetes Mellitus Type 1 (TNDM1), rapidly differentiating it from permanent neonatal diabetes. The assay uses haplotype‑aware bioinformatics to achieve near‑complete diagnostic accuracy.
| Feature | Our NGS Test | Closest Alternative (FISH) |
|---|---|---|
| Technology | Next‑Generation Sequencing (NGS) with haplotype‑aware bioinformatics | Fluorescence in‑situ Hybridization (FISH) for chr.6 centromere |
| Resolution | Detects whole‑chromosome UPD and segmental isodisomy, >99.9% sensitivity | Only large‑scale UPD; cannot detect small segmental events (~85% sensitivity) |
| Turnaround Time | 21–28 working days | 10–14 days |
| Clinical Utility | Definitive diagnosis, tailored insulin cessation timing, genetic counselling | Often requires confirmatory test; limited to initial screening |
Physician Insight & Safety Protocols
“As a medical geneticist, I recognise the profound uncertainty families face when a newborn presents with unexplained hyperglycaemia. This NGS assay provides a definitive molecular diagnosis for UPD(6)pat, enabling precise insulin management and realistic prognostic counselling. A thorough clinical correlation with serial glucose, insulin, and C‑peptide values remains essential, as a negative result does not exclude other neonatal diabetes aetiologies.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Critical Medication Warning
Do not discontinue prescribed insulin or any anti‑hyperglycaemic agent without consulting your managing physician. Abrupt cessation can lead to severe hyperglycaemia or diabetic ketoacidosis.
Exclusion Criteria & ER Red Flags
- Exclusion: Inadequate sample volume, severe haemolysis, known chromosomal abnormality unrelated to chromosome 6, absence of signed informed consent, or lack of pre‑test genetic counselling.
- Emergency Red Flags: If the neonate develops severe hyperglycaemia (blood glucose >250 mg/dL), persistent vomiting, dehydration, altered consciousness, or signs of diabetic ketoacidosis, seek emergency care immediately regardless of a pending genetic result.
Patient FAQ & Clinical Guidance
1. What exactly does the UPD(6)pat NGS test detect?
This NGS test identifies paternal uniparental disomy of chromosome 6 (UPD(6)pat), which causes 6q24‑related transient neonatal diabetes mellitus type 1. It analyses the entire chromosome 6 using next‑generation sequencing to find whether both copies originated from the father, a finding that directly explains the transient diabetes phenotype. The result differentiates TNDM1 from permanent neonatal diabetes and guides the predicted duration of insulin therapy.
2. How is the sample collected and what preparation is required?
A small blood sample, extracted DNA, or a dried blood spot on an FTA card is collected after a mandatory genetic counselling session and signed informed consent. Our ISO‑certified phlebotomist performs a painless heel‑prick or venipuncture at your home between 8 AM and 11 PM. Prior to the test, you must provide a detailed clinical history and a family pedigree documenting any relatives affected by transient neonatal diabetes. No fasting is required for the neonate.
3. How accurate is the test and can it rule out the condition?
With a validated 99.9% analytical sensitivity and 100% specificity for UPD(6)pat, our NGS assay provides near‑certain diagnostic confirmation in clinically suspected neonates. A negative result effectively rules out UPD(6)pat as the cause, prompting investigation for other genetic or permanent neonatal diabetes aetiologies. Nevertheless, a normal result does not exclude all forms of neonatal diabetes; clinical correlation with glucose monitoring remains essential.
4. What support is available after the test result is reported?
Every family receives a post‑result tele‑consultation with a DHA‑licensed Consultant Medical Geneticist to review the findings and implications. A detailed clinical report is issued within 21–28 working days, including a pedigree‑based risk assessment and recommendations for follow‑up glucose monitoring. Insurance billing assistance and coordination of care with your paediatric endocrinologist are provided at no additional charge.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework: All genetic testing services at DNA Labs UAE are conducted 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 genomic data is encrypted, access‑controlled, and never shared without explicit written consent. The laboratory holds DHA Facility License No. 1143 and adheres to the highest standards of confidentiality and ethical practice established by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | 6q24‑Related Transient Neonatal Diabetes Mellitus Type 1 (TNDM) Genetic Test – NGS UPD(6)pat Analysis |
| Price (AED) | 2 800 AED |
| Turnaround Time | 21–28 working days |
| Sample Type / Matrix | Whole blood, extracted DNA, or dried blood spot (FTA card) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next‑Generation Sequencing (NGS) with haplotype‑aware bioinformatics for uniparental disomy detection |
| ICD-10-CM Code | P70.2 |
| LOINC Code | 81226-5 |
| 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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