Test Price
2,800 AEDโ Home Collection Available
๐ Results in 3-4 Weeks
QDPR Gene Hyperphenylalaninemia, BH4-Deficient, Type C Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary: This advanced molecular genetic test provides definitive diagnosis of BH4-deficient hyperphenylalaninemia type C caused by dihydropteridine reductase deficiency. Using targeted next-generation sequencing of the QDPR gene, the assay achieves 99.9% diagnostic sensitivity for detecting disease-causing variants across all coding exons and splice junctions. Results are essential for differentiating BH4-responsive from non-responsive hyperphenylalaninemia and for guiding lifelong metabolic therapy with tetrahydrobiopterin and neurotransmitter precursors.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- 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 QDPR Genetic Test employs targeted next-generation sequencing to analyze the complete coding region and intron-exon boundaries of the QDPR gene (GRCh38 reference assembly). This approach detects missense, nonsense, frameshift, splice-site, and copy-number variants that impair dihydropteridine reductase activity, leading to accumulation of phenylalanine and depletion of tetrahydrobiopterin. Definitive molecular diagnosis enables precision therapy with sapropterin dihydrochloride, levodopa, and 5-hydroxytryptophan while avoiding irreversible neurological damage.
| Feature | Our QDPR NGS Test | Closest Alternative (Biochemical Screening) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; single-nucleotide variant detection across all coding regions | Moderate sensitivity; may miss mild variants or atypical presentations |
| Method | Targeted Next Generation Sequencing (NGS) of QDPR gene (GRCh38) | Enzymatic assay of dihydropteridine reductase activity in blood spots / timed urine pterin analysis |
| Speed | Results delivered in 3-4 Weeks | Results typically within 1-2 weeks, but often require confirmatory genetic testing |
Physician Insight & Safety Protocols
โIn my practice, confirming a biallelic pathogenic QDPR variant fundamentally alters the clinical trajectory โ it justifies lifelong tetrahydrobiopterin replacement and neurotransmitter precursor therapy while ruling out classical phenylketonuria. Post-test genetic counselling must address autosomal recessive recurrence risk, carrier testing for siblings, and prenatal diagnostic options for future pregnancies. Metabolic emergency preparedness remains paramount even after molecular confirmation.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication Continuity & Clinical Oversight
Patients currently prescribed sapropterin, levodopa/carbidopa, or 5-hydroxytryptophan must not alter or discontinue these medications without direct supervision from their managing metabolic physician. Abrupt cessation can precipitate acute neurotransmitter depletion manifesting as dystonia, oculogyric crisis, or life-threatening autonomic instability. All therapy adjustments should be guided by molecular results in conjunction with plasma phenylalanine, CSF neurotransmitter metabolite panels, and serial clinical assessments.
Exclusion Criteria & Emergency Red Flags
- Neonates with positive newborn screening must receive immediate clinical evaluation and confirmatory biochemistry; DNA testing is complementary, not a first-line emergency.
- Patients experiencing acute dystonia, seizures, or severe movement disorders require urgent metabolic crisis management โ do not postpone care while awaiting genetic results.
- Test is not suitable as a stand-alone screening without concurrent plasma amino acid and CSF neurotransmitter analysis if clinically indicated.
- If the patient is a minor, consent and counselling must comply with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Decree-Law No. 4 of 2016 on Medical Liability regarding informed consent for genetic testing.
Patient FAQ & Clinical Guidance
1. What exactly does the QDPR Gene NGS test detect?
A: The QDPR Genetic Test accurately detects disease-causing mutations in the QDPR gene responsible for BH4-deficient hyperphenylalaninemia type C. It sequences all coding exons and splice junctions, identifying missense, nonsense, frameshift, and splice-site variants that impair dihydropteridine reductase activity. Results directly guide treatment with tetrahydrobiopterin and neurotransmitter precursors.
2. How is the test performed and what is the turnaround time?
A: A single peripheral whole blood draw, dried blood spot (FTA card), or extracted DNA is analyzed via targeted NGS. Results are returned within 3-4 weeks. Our home collection team follows ISO-certified cold-chain protocols, and VIP mobile phlebotomy is available daily from 8 AM to 11 PM, seven days a week.
3. Is the test covered by medical insurance in the UAE?
A: Many UAE insurers cover genetic testing for metabolic disorders when accompanied by a physician referral. Our team provides direct billing verification via WhatsApp at +971 54 548 8731. We confirm pre-authorization, co-pay, and eligibility under your plan immediately after receiving your referral form.
UAE Regulatory & Data Privacy Adherence
This clinical genetic testing service operates 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 genomic data is encrypted, access-restricted, and processed exclusively within DHA-licensed facilities. All laboratory procedures are ISO 9001:2015 accredited (Cert: INT/EGQ/2509DA/3139). Informed consent for genetic analysis adheres to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patients and families receive pre- and post-test counselling regarding inheritance patterns, carrier risks, and data confidentiality rights.
Clinical & Logistical Metadata
| Test Name | QDPR Gene Hyperphenylalaninemia, BH4-Deficient, Type C Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 Weeks (21-28 Business Days) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA), Dried Blood Spot (FTA Card), or Extracted DNA |
| Methodology Used | Targeted Next Generation Sequencing (NGS) โ QDPR gene, full coding region & splice junctions (GRCh38) |
| ICD-10-CM Code | E70.1 (Other hyperphenylalaninemia) |
| LOINC Code | 55233-1 (Gene mutations identified in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | 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
Preparation Required
["No specific fasting required", "Inform lab of current medications"]
Medically Reviewed by Dr. Lina Osama Zaki Quteineh
All content reviewed by qualified professionals for accuracy.
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians