Test Price
2,800 AED✅ Home Collection Available
Maternal UPD Chromosome 14 (Temple Syndrome) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Clinical Context: This next-generation sequencing (NGS) assay detects maternal uniparental disomy of chromosome 14 (UPD[14]) responsible for Temple syndrome, an imprinting disorder marked by prenatal and postnatal growth retardation, hypotonia, and precocious puberty. The test achieves 99.9% diagnostic sensitivity for both complete and mosaic UPD events as well as associated methylation defects.
Laboratory Certification: Processed at DNA Labs UAE under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) with full DHA facility licensure (License 1143). All phases of sample handling, sequencing, and bioinformatic analysis follow stringent internal quality controls.
Pricing & Logistics: 2,800 AED includes VIP mobile phlebotomy and temperature-controlled cold-chain home collection, expert genetic counselling, post-test telephonic clinical guidance, and direct insurance billing verification via WhatsApp at +971 54 548 8731. Turnaround time is 3 to 4 weeks from sample receipt.
Test Overview & Methodology
Maternal UPD chromosome 14 arises when both copies of chromosome 14 are inherited from the mother and none from the father, disrupting genomic imprinting at the 14q32 region. This leads to Temple syndrome, a condition requiring molecular confirmation for accurate prognosis, endocrine surveillance, and family planning. The NGS platform employed here integrates whole-chromosome SNP genotyping with allele-specific bisulfite sequencing to resolve UPD origin and methylation status in a single workflow.
| Feature | Our Test (Precision) | Closest Alternative |
|---|---|---|
| Methodology | NGS with allele-specific methylation analysis (99.9% diagnostic sensitivity) | Methylation-specific MLPA (lower resolution, may miss partial UPD) |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Sample Options | Blood (EDTA), Dried Blood Spot (FTA), Extracted DNA | Blood only |
| Regulatory Compliance | DHA, MOHAP, ISO 9001:2015, UAE PDPL | Variable |
Physician Insight & Safety Protocols
"As a consultant medical geneticist working with families navigating suspected imprinting disorders, I recognize the anxiety that accompanies the search for a molecular diagnosis. This NGS assay delivers definitive UPD and methylation data, yet results must always be correlated with clinical and family history before guiding management. Genetic findings alone should never replace comprehensive paediatric and endocrine evaluation."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Medication Advisory
⚠ Do not discontinue, adjust, or initiate any prescribed therapy—including growth hormone, endocrine modulators, or anticonvulsants—without direct consultation with the treating physician. Genetic test results are adjunctive, not a substitute for clinical judgement.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria
- Active systemic infection or fever at the time of blood draw (may compromise DNA quality and assay accuracy).
- Blood transfusion within the past 14 days; donor-derived DNA can mask the true UPD status.
- Inability to provide informed consent; for minors, a legal guardian must provide written consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Emergency Red Flags
- If the infant or child presents with severe feeding difficulties, recurrent apnoeic episodes, or unexplained hypoglycaemia, seek urgent paediatric assessment immediately—do not delay care awaiting genetic results.
- Suspected precocious puberty requires prompt endocrine referral and evaluation; genetic confirmation supports but does not gatekeep therapeutic intervention.
- Any acute neurological deterioration (seizures, lethargy, focal deficits) warrants emergency room evaluation without waiting for molecular findings.
Patient FAQ & Clinical Guidance
1. What is maternal UPD chromosome 14 (Temple syndrome) and how is it diagnosed?
Maternal uniparental disomy of chromosome 14 means the child inherited both copies of chromosome 14 from the mother and none from the father. This disrupts imprinted genes at the 14q32 region, leading to Temple syndrome—a condition characterised by intrauterine and postnatal growth restriction, low muscle tone (hypotonia), early puberty, and distinctive facial features. Diagnosis requires molecular analysis that can detect both the uniparental inheritance pattern and the accompanying methylation abnormalities; NGS-based testing provides the highest resolution for complete and mosaic forms.
2. Why choose this NGS test over traditional karyotype or methylation MLPA?
Standard karyotyping cannot distinguish uniparental disomy from normal biparental inheritance, and methylation-specific MLPA may miss low-level mosaicism or partial UPD events. This NGS assay combines genome-wide SNP genotyping with targeted methylation sequencing, delivering 99.9% sensitivity for UPD detection and quantitative methylation analysis across the critical 14q32 imprinting centre. The single-platform workflow reduces turnaround time and eliminates the need for sequential testing.
3. How long does it take to get results and what does the price cover?
Results are available within 3 to 4 weeks from the date the sample is received at our Dubai Healthcare City laboratory. The 2,800 AED fee includes VIP mobile phlebotomy with temperature-controlled cold-chain transport from your home or office, a pre-test genetic counselling session, the full NGS analysis and bioinformatic interpretation, a post-test telephonic consultation with a genetics professional, and assistance with direct insurance billing. Home collection is available daily from 8 AM to 11 PM across all UAE emirates.
UAE Regulatory & Data Privacy Adherence
Data Protection Framework: All genetic data generated by this test is processed and stored 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 information is encrypted both at rest and in transit, access is role-restricted to the direct clinical team, and no genetic data is shared with third parties without explicit written consent.
Clinical Safety & Consent: Informed consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every patient or legal guardian receives a clear explanation of the test's purpose, limitations, and implications before sample collection. Counselling is provided both before and after result delivery to support informed decision-making.
Facility Credentials: DNA Labs UAE operates under DHA Facility License Number 1143 and maintains ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). The laboratory is subject to periodic audit by the Dubai Health Authority and the Ministry of Health and Prevention.
Clinical & Logistical Metadata
| Test Name | Maternal UPD Chromosome 14 (Temple Syndrome) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Dried Blood Spot (FTA), or Extracted DNA |
| Methodology Used | Next-Generation Sequencing with Allele-Specific Methylation Analysis |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 81303-9 |
| DHA Facility License & Laboratory Address Invariants | DHA License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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