Test Price
2,800 AED✅ Home Collection Available
PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Genetic Test – UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This next‑generation sequencing (NGS) test provides a definitive molecular diagnosis for phosphoglycerate dehydrogenase deficiency, a rare autosomal recessive inborn error of serine biosynthesis. The assay covers the entire coding region of the PHGDH gene, detecting single‑nucleotide variants, small indels, and copy‑number changes with >99% analytical sensitivity. Early confirmation enables targeted metabolic management, genetic counselling, and family risk assessment.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next‑Generation Sequencing (NGS) Processing.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- ✓ Clinical Guidance: Complimentary Telephonic Post‑Test Result Interpretation by a DHA‑Licensed Consultant Medical Geneticist.
- ✓ Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The test utilises next‑generation sequencing on the Illumina platform to analyse all exons and flanking intronic regions of the PHGDH gene, plus deletion/duplication analysis. This approach achieves near‑complete detection of pathogenic mutations responsible for phosphoglycerate dehydrogenase deficiency. For comparison, traditional Sanger sequencing only covers selected exons, missing up to 40% of causative variants.
| Feature | Our PHGDH NGS Test | Closest Alternative |
|---|---|---|
| Diagnostic Precision | >99% analytical sensitivity for single nucleotide variants, small indels, and copy‑number changes | Sanger sequencing of selected exons only (~60% mutation coverage) |
| Methodology | Next‑Generation Sequencing (Illumina platform) with deletion/duplication analysis | Capillary Sanger sequencing (limited to single exon amplification) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Sample Options | Whole Blood, Extracted DNA, or One Drop of Blood on FTA Card | Whole Blood only (requires larger volume) |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasise that the PHGDH genetic test provides a definitive molecular diagnosis for phosphoglycerate dehydrogenase deficiency. However, results must always be integrated with clinical and biochemical findings. Early confirmation allows for targeted serine supplementation and genetic counselling for the family. I recommend this test for any child presenting with congenital microcephaly, developmental delay, and seizures of unknown etiology.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Safety & Patient Consent
In accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability, informed consent must be obtained before sample collection. Do not discontinue any prescribed medication or supplement without consulting your treating doctor – abrupt changes can destabilise the metabolic condition. Genetic counselling is mandatory pre‑ and post‑test to ensure understanding of implications and result disclosure.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Severe acute intercurrent illness (e.g., sepsis, status epilepticus) – postpone sample collection until stabilised.
- Known bleeding disorder that contraindicates even a capillary finger‑prick blood spot; discuss with your doctor.
- Lack of fasting state – not required for DNA, but inform the phlebotomist about any recent transfusion.
🚨 Red Flags – Seek Emergency Care if:
- Sudden onset of intractable seizures or loss of consciousness.
- Signs of severe metabolic acidosis (deep, rapid breathing, confusion, vomiting).
- Unexplained neurological deterioration after test booking – call 998 immediately.
Patient FAQ & Clinical Guidance
1. What is the clinical purpose of the PHGDH Genetic Test?
Snippet: This test detects mutations in the PHGDH gene to confirm phosphoglycerate dehydrogenase deficiency, enabling precise diagnosis and guiding serine replacement therapy.
The assay sequences the entire PHGDH coding region to identify both previously reported and novel pathogenic variants. When a mutation is found, it confirms the metabolic block in serine biosynthesis, allowing the medical team to implement a targeted treatment plan that often includes oral L‑serine and glycine supplementation. The test is also essential for accurate genetic counselling and prenatal/preimplantation options for affected families.
2. How is the sample collected and does it require hospital admission?
Snippet: A small amount of blood is taken from a finger prick or vein by a mobile phlebotomist at your home, without hospitalisation.
Our VIP mobile phlebotomy service operates between 8 AM and 11 PM daily. A DHA‑licensed phlebotomist will visit your location with an ISO‑certified cold‑chain kit. For the FTA card method, only a single drop of blood from a finger prick is needed, making it especially convenient for infants and young children. The specimen is then transported under controlled temperature to our reference genetic laboratory, where DNA is extracted and analysed. You receive the report digitally within 3–4 weeks.
3. How reliable is this test and what do negative results mean?
Snippet: The test’s analytical sensitivity exceeds 99% for sequence variants, but a negative result does not exclude PHGDH deficiency entirely.
Our NGS method covers all exons and flanking intronic regions, plus copy‑number analysis, achieving near‑complete detection of known and novel mutations linked to the disease. However, a negative result could arise if the causative variant lies deep within intronic or regulatory regions not captured by the assay, or if the disorder is caused by a different gene in the serine synthesis pathway (e.g., PSAT1, PSPH). In such cases, your physician may recommend a broader metabolic gene panel or biochemical profiling of plasma amino acids. Always interpret the result alongside clinical and biochemical data.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
This genetic test service fully complies 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. All patient data is encrypted, access‑controlled, and processed exclusively within secure UAE infrastructure. The laboratory holds DHA Facility License No. 1143 and operates under ISO 9001:2015 quality management (Cert: INT/EGQ/2509DA/3139). Genetic counselling is mandatory before and after testing to ensure informed consent and appropriate result disclosure.
Clinical & Logistical Metadata
| Test Name | PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or One Drop of Blood on FTA Card |
| Methodology Used | Next‑Generation Sequencing (Illumina platform) with deletion/duplication analysis |
| ICD-10-CM Code | E72.89 (Other specified disorders of amino-acid metabolism) |
| LOINC Code | 94219-4 (PHGDH gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| 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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