PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D NGS Genetic Test
Short Name: PCBD1 Gene Test
Also known as: BH4 Deficiency Type D, PCBD1 Deficiency, Hyperphenylalaninemia due to PTPS deficiency
PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the PCBD1 gene to diagnose BH4 deficient hyperphenylalaninemia type D, enabling early intervention and management to prevent neurological complications.
- Test Code
- 4706
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Hyperphenylalaninemia, BH4 deficient, type D are required before sample collection.
Method: Venipuncture or FTA Card
Laboratory Analysis
Your sample is analyzed using NGS Technology in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the PCBD1 gene to diagnose BH4 deficient hyperphenylalaninemia type D, enabling early intervention and management to prevent neurological complications.
How to Prepare
- Blood sample: Collect in EDTA tube
- Extracted DNA: Provide in sterile container
- FTA Card: Use one drop of blood as per instructions
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of PCBD1 Gene Hyperphenylalaninemia, BH4 deficient, type D. Consult a geneticist for management.
Negative for pathogenic mutation
No mutations detected in PCBD1 gene. Consider other causes of hyperphenylalaninemia.
Variant of unknown significance
Genetic variant found but clinical significance unclear. Genetic counseling recommended.
Consult a doctor if symptoms such as developmental delays, seizures, or behavioral issues are present, or if there is a family history of hyperphenylalaninemia.
Limitations
- ⚠Test may not detect all genetic variants
- ⚠Results require clinical correlation
- ⚠Limited to PCBD1 gene analysis
Risks & Considerations
- ●Minimal physical risk from blood draw
- ●Potential psychological impact of genetic results
Frequently Asked Questions
What is PCBD1 Gene Hyperphenylalaninemia?
What are the symptoms of BH4 deficient type D?
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Is home sample collection available?
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What does a positive result mean?
Can this test be done for newborns?
Is genetic counseling required?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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