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QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic Test

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QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic Test

Short Name: QDPR Gene BH4 Deficiency Test

Also known as: BH4 Deficiency Type C Genetic Test, QDPR Mutation Analysis

QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to diagnose QDPR gene mutations causing BH4-deficient hyperphenylalaninemia type C through comprehensive NGS analysis, guiding personalized treatment and genetic counseling.

Test Code
2099
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session to assess clinical history and draw a pedigree chart for family members affected with hyperphenylalaninemia.

Method: Venipuncture or blood drop on FTA card

Step 2

Laboratory Analysis

Sample collection via venipuncture or blood drop on FTA card, performed by a trained professional.

Step 3

Report Delivery

Sample is transported to the laboratory under ambient conditions for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended prior to testing.
2
During the Test:Blood sample is collected and sent for NGS analysis in a certified laboratory.
3
After the Test:Results are interpreted by a geneticist, and follow-up counseling is provided.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose QDPR gene mutations causing BH4-deficient hyperphenylalaninemia type C through comprehensive NGS analysis, guiding personalized treatment and genetic counseling.

How to Prepare

  • Provide detailed clinical history of the patient
  • Complete a genetic counseling session
  • Ensure sample is collected in an EDTA tube or on an FTA card
  • Label samples accurately with patient information

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early detection through NGS testing allows for timely intervention, potentially improving neurological outcomes for patients with BH4 deficiency."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop on FTA card

Sample Stability

Blood: Stable at room temperature for 24 hours
FTA card: Stable at ambient temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or container
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of mutations in the QDPR gene associated with BH4 deficiency type C.
Positive result: Pathogenic variant detected, confirming diagnosis of QDPR-related BH4 deficiency.
Negative result: No pathogenic variants found; clinical correlation and further testing may be needed.
Variant of uncertain significance: Requires additional evaluation or family studies.
⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if symptoms such as intellectual disability, seizures, or movement disorders are present, or if there is a family history of metabolic disorders.

Limitations

  • ⚠May not detect all mutation types (e.g., large deletions)
  • ⚠Results must be interpreted with clinical context
  • ⚠Does not cover other genes related to BH4 metabolism

Risks & Considerations

  • ●Minimal physical risks from blood draw
  • ●Potential psychological impact of results
  • ●Risk of incidental findings

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Technical errors in sequencing
  • ●Insufficient DNA concentration

Compare With Similar Tests

TestQDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic TestPAH Gene Mutation TestBH4 Loading Test
ComparisonQDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic Test

Frequently Asked Questions

What is the QDPR Gene Hyperphenylalaninemia, BH4 deficient, type C NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to identify mutations in the QDPR gene, which causes a rare metabolic disorder leading to hyperphenylalaninemia and neurological symptoms.
Who should consider this test?
Individuals with symptoms like intellectual disability, seizures, movement disorders, or a family history of BH4 deficiency or related metabolic disorders.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the QDPR gene for mutations.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the QDPR gene, confirming diagnosis of BH4-deficient hyperphenylalaninemia type C, which requires medical management.
What does a negative result mean?
A negative result suggests no pathogenic variants were detected, but symptoms may still warrant further clinical evaluation.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
Are there any risks associated with the test?
Risks are minimal, primarily involving standard blood draw discomfort. Psychological impact of results may occur, so genetic counseling is advised.
How should I prepare for the test?
No fasting is required. Provide clinical history and undergo genetic counseling to discuss test implications.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test accurate?
NGS is highly accurate for detecting gene mutations, but results should be interpreted in clinical context by a healthcare professional.
Can this test be used for family planning?
Yes, it can help identify carriers and inform genetic counseling for family planning decisions.
Where can I get this test done?
DNA Labs India offers this test with home collection in many cities across India; contact for booking and details.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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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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✓ 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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