Test Price
2,800 AED✅ Home Collection Available
PCBD1 Gene Hyperphenylalaninemia, BH4-Deficient Type D Genetic Test in Dubai – 2,800 AED
Executive Summary & Core Metrics
Our PCBD1 gene sequencing test provides definitive diagnosis for BH4-deficient hyperphenylalaninemia type D. With 99.9% diagnostic sensitivity via ISO‑accredited next‑generation sequencing, this test ensures accurate detection of pathogenic variants. Premium home collection and telephonic clinical guidance are included.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing test analyzes the PCBD1 gene for pathogenic variants causing BH4-deficient hyperphenylalaninemia type D, a rare inborn error of metabolism. It is essential for individuals with elevated phenylalanine levels, family history, or biopterin synthesis disorders, ensuring accurate diagnosis and tailored management.
| Feature | Our Test (PCBD1 NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene coverage, includes deep intronic variants. | Limited to mutational hotspots; may miss regulatory variants. |
| Methodology | NGS (Next Generation Sequencing) on Illumina platform, validated with LC‑MS/MS metabolite correlation. | Sanger sequencing; no simultaneous metabolite profiling. |
| Turnaround Speed | 3–4 weeks with expedited reporting available. | 2–3 weeks for known variants only. |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I stress that genetic testing for PCBD1 must be integrated with biochemical and clinical assessments. Our multidisciplinary team ensures that every result is interpreted within the full clinical context, guiding evidence‑based management. This test is a cornerstone for early diagnosis and prevention of neurological complications.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Critical Medication Notice
Do not discontinue prescribed medication without consulting your doctor. Abrupt changes to BH4 supplements, Levodopa, or dietary phenylalanine restriction can precipitate acute neurological deterioration.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active febrile illness, severe hemolysis, or unmanaged coagulopathy precludes home blood collection; reschedule after stabilization.
- Red Flag Symptoms (seek immediate ER care): Sudden onset severe vomiting, lethargy, seizures, ataxia, or loss of consciousness in a known hyperphenylalaninemia patient — may indicate acute metabolic crisis.
- Do not collect sample if: Patient is on high-dose ascorbic acid within 24 hours (interferes with biopterin assay).
Patient FAQ & Clinical Guidance
1. What is the PCBD1 gene test and why is it important?
A genetic test analyzing PCBD1 mutations to confirm BH4-deficient hyperphenylalaninemia type D, guiding tailored therapy. This test identifies biallelic pathogenic variants that disrupt tetrahydrobiopterin synthesis, enabling clinicians to prescribe BH4 supplementation or dietary adjustments and avoid irreversible neurological damage.
2. How do I prepare for the test and what is the sample collection process?
No fasting necessary: home blood/DNA collection by a DHA-licensed phlebotomist ensures minimal discomfort and reliable results. A single blood draw, extracted DNA, or a dried blood spot on an FTA card is accepted. Our VIP mobile phlebotomy arrives at your doorstep within the scheduled 8 AM–11 PM window, using cold‑chain transport straight to our ISO‑certified lab.
3. How long does it take to receive results and what does interpretation involve?
Results are delivered in 3–4 weeks with a detailed report highlighting pathogenic variants and clinical significance. Your report follows ACMG guidelines, classifying each variant as benign, likely pathogenic, or pathogenic, and includes a clinical interpretation note for your physician. We also offer a telephonic guidance session to explain findings in plain language.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and strictly adheres to 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 clinical procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety and consent. Your data is encrypted and handled with utmost confidentiality.
Clinical & Logistical Metadata
| Test Name | PCBD1 Gene Sequencing for BH4-Deficient Hyperphenylalaninemia Type D |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Next Generation Sequencing (NGS) on Illumina platform, validated with LC‑MS/MS metabolite correlation. |
| ICD-10-CM Code | E70.1 |
| LOINC Code | 48018-6 |
| DHA Facility License & Laboratory Address Invariants | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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