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PTS Gene Hyperphenylalaninemia, BH4-deficient, type A NGS Genetic Test

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PTS Gene Hyperphenylalaninemia, BH4-deficient, type A NGS Genetic Test

Short Name: PTS Gene BH4-Deficient Type A NGS Test

Also known as: PTPS Deficiency Test, BH4-Deficiency Type A Genetic Test

PTS Gene Hyperphenylalaninemia, BH4-deficient, type A 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 from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the PTS gene for the diagnosis of BH4-deficient hyperphenylalaninemia type A, guiding treatment and management.

Test Code
2106
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation is required for this test. Ensure to inform the healthcare provider of any medications or supplements.

Method: Venipuncture or FTA Card Spotting

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture. For FTA card, a drop of blood will be spotted on the card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Genetic counseling is recommended before testing to understand implications. Provide detailed clinical and family history.
2
During the Test:The test involves sequencing the PTS gene from the provided sample. No patient involvement during the laboratory process.
3
After the Test:Results will be available in 3-4 weeks. Follow-up with the referring physician for interpretation and next steps.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the PTS gene for the diagnosis of BH4-deficient hyperphenylalaninemia type A, guiding treatment and management.

How to Prepare

  • For blood sample: Use standard venipuncture technique.
  • For FTA card: Spot one drop of blood on the designated area and let it dry.
  • Label the sample correctly with patient details.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for BH4-deficient hyperphenylalaninemia is essential for early diagnosis and treatment to prevent neurological damage."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card Spotting

Sample Stability

Blood samples: Stable at room temperature for up to 24 hours, or refrigerate at 2-8°C for longer.
FTA cards: Stable at room temperature for several days if kept dry.
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

The results of the PTS Gene NGS Genetic Test indicate whether pathogenic mutations are present in the PTS gene.
📊

Pathogenic variant detected

Confirms diagnosis of BH4-deficient hyperphenylalaninemia type A. Genetic counseling and treatment planning are recommended.

📊

No pathogenic variant detected

The condition is unlikely due to PTS gene mutations. Consider other causes or additional testing.

📊

Variant of uncertain significance

Further testing and clinical correlation are needed to determine significance.

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if the test result is positive or if symptoms persist despite negative testing.

Limitations

  • ⚠This test may not detect all genetic variants or large deletions/duplications in the PTS gene.
  • ⚠Results should be interpreted in conjunction with clinical findings and biochemical tests.
  • ⚠Variants of uncertain significance may be identified, requiring further evaluation.

Risks & Considerations

  • ●Minimal risks associated with blood draw: bruising, slight pain, or infection.
  • ●No direct risks from the genetic testing itself.

Frequently Asked Questions

What is PTS Gene Hyperphenylalaninemia, BH4-deficient, type A?
It is a rare genetic disorder caused by mutations in the PTS gene, leading to deficiency of the enzyme 6-pyruvoyltetrahydropterin synthase (PTPS), which affects phenylalanine metabolism and can cause neurological issues.
What are the symptoms of this disorder?
Symptoms may include delayed development, intellectual disability, seizures, behavioral problems, muscle stiffness, abnormal movements, and hyperactivity, though severity varies.
How is the diagnosis made?
Diagnosis involves clinical evaluation, biochemical tests to measure phenylalanine levels, and genetic testing such as the NGS test to identify PTS gene mutations.
What does the NGS Genetic Test involve?
The test uses next-generation sequencing to analyze DNA from a blood or FTA card sample for mutations in the PTS gene, providing accurate genetic diagnosis.
What is the cost of this test?
The cost is INR 20000, which includes sample collection, DNA sequencing, and genetic counseling.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks from sample receipt.
What do the test results mean?
Results indicate presence or absence of pathogenic PTS gene mutations. Pathogenic variants confirm diagnosis, while no variants suggest the condition is unlikely.
Are there any risks or side effects?
Risks are minimal, limited to those associated with blood draw, such as bruising or infection. The genetic test itself poses no direct risks.
How should I prepare for the test?
No special preparation is needed. Ensure to provide clinical history and inform about any medications during genetic counseling.
What is the accuracy of the test?
NGS technology provides high accuracy for detecting mutations in the PTS gene, but it may not identify all variants. Results should be interpreted with clinical context.
Who should consider this test?
Individuals with symptoms of hyperphenylalaninemia, elevated phenylalanine levels, or family history of BH4 deficiency should consider testing for early diagnosis and management.
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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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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