Test Price
2,800 AED✅ Home Collection Available
GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test
Executive Summary & Core Metrics
- ✔ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- ✔ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- ✔ Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- ✔ Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The GPHN gene NGS test identifies pathogenic variants causing Molybdenum Cofactor Deficiency Type C (MOCOD type C), a rare, life-threatening neurometabolic disorder. This comprehensive sequencing detects single nucleotide variants, small indels, and copy number changes across the full coding region, enabling early diagnosis, family risk assessment, and targeted management in the UAE population.
| Feature | Our GPHN NGS Test | Biochemical Enzyme Assay |
|---|---|---|
| Diagnostic Precision | Full gene sequencing (NGS) – detects >99% of pathogenic variants | Indirect measurement of sulfite oxidase/xanthine dehydrogenase activity; may miss carrier status |
| Methodology | Next‑Generation Sequencing with CNV analysis | Spectrophotometric / fluorometric enzyme assays |
| Turnaround Time | 3 – 4 Weeks | 2 – 4 Weeks |
| Clinical Utility | Absolute confirmation, family screening, prenatal/preimplantation options | Functional confirmation only; cannot identify carriers |
Physician Insight & Safety Protocols
“Genetic testing for Molybdenum Cofactor Deficiency Type C provides definitive molecular confirmation. A positive GPHN mutation pinpoints the diagnosis, allowing targeted counseling and early intervention. Equally, a negative result does not rule out other inborn errors of metabolism. I strongly advise comprehensive metabolic consultation both before and after testing.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
⚠ Do not stop or adjust prescribed antiepileptic drugs, metabolic formulas, or any ongoing therapy without explicit guidance from your treating physician. Test results should inform care, never replace it.
Clinical Exclusion Criteria & Emergency Red Flags
- This test is not intended for asymptomatic general population screening without clinical suspicion of neurometabolic disease.
- Requires prior genetic counselling session (pedigree chart mandatory).
- Seek urgent emergency care if the patient develops: therapy‑resistant seizures, encephalopathy, respiratory distress, or rapid neurological deterioration—DO NOT wait for test results.
- Test cannot be performed on non‑viable specimens or those collected outside the approved cold‑chain protocol.
Patient FAQ & Clinical Guidance
1. What does a positive GPHN NGS result mean for my child’s treatment?
A positive GPHN mutation confirms Molybdenum Cofactor Deficiency Type C, which guides urgent initiation of cyclic pyranopterin monophosphate (cPMP) therapy if eligible, and directs lifelong metabolic management under a specialist team. Your neonatologist will explain all actionable steps immediately upon receiving the validated report.
2. What does a positive result mean for my family?
It confirms the diagnosis in the index patient and allows carrier screening for parents and siblings. Our genetics counsellor can arrange a family planning session to discuss reproductive options and prevention strategies.
3. Is home sample collection available for this genetic test across the UAE?
Yes, our ISO‑certified cold‑chain home collection service operates daily from 8 AM to 11 PM. A trained pediatric phlebotomist collects the required peripheral blood or buccal swab at your doorstep within 60 minutes of your confirmed appointment. This service covers all Emirates including Abu Dhabi, Dubai, Sharjah, and the Northern Regions.
UAE Regulatory & Data Privacy Adherence
This diagnostic service fully complies with:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – all genetic data is encrypted and anonymized.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability – ensuring patient consent and clinical safety.
Performed at DNA Labs UAE, DHA Licensed Facility No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Genetic counselling is mandatory prior to sample collection.
For appointments & insurance verification, contact WhatsApp: +971 54 548 8731
Clinical & Logistical Metadata
| Test Name | GPHN Gene Molybdenum Cofactor Deficiency Type C Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or buccal swab; home collection available |
| Methodology Used | Next‑Generation Sequencing with CNV analysis |
| ICD‑10‑CM Code | E83.89, E83.09 |
| LOINC Code | 93722-8 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians