Test Price
2,800 AED✅ Home Collection Available
PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل الجين PHGDH لنقص نازعة هيدروجين الفوسفوغليسيرات في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
نقدم فحصاً جينياً دقيقاً لجين PHGDH لتشخيص نقص نازعة هيدروجين الفوسفوغليسيرات، وهو اضطراب استقلابي نادر، بمعايير معتمدة من هيئة الصحة بدبي وتحت إشراف استشاريين مرخصين.
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next‑Generation Sequencing (NGS) Processing.
- ✓ Premium Logistics: Paid Hospital‑Grade Home Collection with ISO Certified Cold‑Chain Transport and VIP Mobile Phlebotomy (8 AM–11 PM, 7 days).
- ✓ Clinical Guidance: Complimentary Telephonic Post‑Test Result Interpretation by a DHA‑Licensed specialist.
- ✓ Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Overview
This next‑generation sequencing (NGS) test comprehensively analyses the entire coding region of the PHGDH gene to detect pathogenic mutations responsible for phosphoglycerate dehydrogenase deficiency – a rare autosomal recessive inborn error of serine biosynthesis that manifests as congenital microcephaly, severe neurological impairment, and intractable seizures. Early molecular confirmation enables targeted metabolic management, genetic counselling, and family risk assessment, dramatically improving long‑term outcomes.
يُحلل هذا الفحص المتطور باستخدام تقنية التسلسل الجيني من الجيل التالي كامل الشفرة الوراثية لجين PHGDH لاكتشاف الطفرات المسببة لنقص نازعة هيدروجين الفوسفوغليسيرات، مما يتيح تشخيصاً موثوقاً وتخطيطاً علاجياً واستشارات وراثية دقيقة.
| 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 Protocol
As a board‑certified clinical pathologist, I understand how worrying a possible genetic diagnosis can be. This test offers a definitive molecular answer for phosphoglycerate dehydrogenase deficiency, yet the result always needs to be viewed together with your child’s clinical picture, brain imaging, and amino acid profiles. Please discuss every finding with your treating physician so that a personalised treatment plan – often including serine and glycine supplementation – can be initiated without delay. – Dr. PRABHAKAR REDDY, DHA License No. 61713011.
⚠️ Important Medication Warning: Do not discontinue any prescribed medication or supplement without consulting your treating doctor. Abrupt changes can destabilise the metabolic condition.
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
Q1: 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.
يكشف هذا الفحص عن طفرات الجين PHGDH ليؤكد تشخيص نقص نازعة هيدروجين الفوسفوغليسيرات، مما يوجه العلاج التعويضي بالسيرين ويساعد في الاستشارة الوراثية للعائلة.
Q2: 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 premium home collection 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.
يُجرى سحب عينة الدم في المنزل عبر خدمة الفصد المتنقلة دون حاجة لدخول المستشفى، وتُنقل العينة في حاوية مبرّدة معتمدة لضمان الاستقرار.
Q3: 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.
تبلغ حساسية الفحص التحليلية أكثر من 99%، لكن النتيجة السلبية لا تنفي تماماً وجود النقص؛ فقد تتطلب فحوصاً جينية أو استقلابية إضافية.
UAE Regulatory Compliance:
This service complies with Federal Decree‑Law No. 41 of 2024 on medical liability (Art. 87), the 2026 CDS Law regarding minors, and the UAE Personal Data Protection Law (PDPL). Our genetic testing facility is DHA‑licensed under facility number 9834453 and operates under ISO 9001:2015 quality management (Cert: INT/EGQ/2509DA/3139). Genetic counselling is mandatory pre‑ and post‑ to ensure informed consent and appropriate result disclosure.
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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