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PHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic Test

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PHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic Test

Short Name: PHGDH Deficiency NGS Test

Also known as: PHGDH deficiency, Phosphoglycerate dehydrogenase deficiency

PHGDH Gene Phosphoglycerate dehydrogenase deficiency 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.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose PHGDH deficiency by detecting mutations in the PHGDH gene using NGS technology, guiding treatment and management decisions for metabolic disorders.

Test Code
2206
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
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree chart as advised.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

Apply pressure to the collection site; sample sent to lab for processing.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule appointment; provide medical history and family tree.
2
During the Test:Blood draw or DNA sample collection; minimal discomfort.
3
After the Test:Resume normal activities; await report in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose PHGDH deficiency by detecting mutations in the PHGDH gene using NGS technology, guiding treatment and management decisions for metabolic disorders.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Follow sample handling guidelines

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing PHGDH deficiency and improving patient outcomes through timely interventions."

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 collection

Sample Stability

Room temperatureUp to 48 hours for blood; stable for DNA extracts
RefrigeratedUp to 7 days for blood samples
Sample Rejection Criteria:
  • Hemolyzed samples
  • Incorrect labeling
  • Insufficient volume
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PHGDH gene. Genetic counseling is advised for understanding implications.
📊

No pathogenic variants

No genetic cause identified; consider other diagnoses

📊

Pathogenic variants detected

Confirms PHGDH deficiency; guide treatment and family screening

⚠️ When to Consult a Doctor:

Consult a geneticist or healthcare provider immediately if symptoms like seizures or developmental delays are present, or upon receiving abnormal test results.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires confirmation by additional methods in some cases
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant genetic test risks

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Insufficient sample volume

Compare With Similar Tests

TestPHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic Test
ComparisonPHGDH Gene Phosphoglycerate dehydrogenase deficiency NGS Genetic Test

Frequently Asked Questions

What is PHGDH deficiency?
PHGDH deficiency is a rare genetic disorder affecting serine production, leading to neurological symptoms.
What are the common symptoms of PHGDH deficiency?
Symptoms include developmental delay, intellectual disability, seizures, abnormal muscle tone, and microcephaly.
How is PHGDH deficiency diagnosed?
Diagnosis is through genetic testing, specifically NGS to detect mutations in the PHGDH gene.
What is the cost of the PHGDH genetic test at DNA Labs India?
The test costs INR 20,000 with free home sample collection available.
Is home sample collection available for this test?
Yes, free home collection is offered for online bookings across India.
What is the turnaround time for receiving results?
Results are typically available in 3 to 4 weeks.
What does the NGS genetic test involve?
It involves sequencing the PHGDH gene to identify pathogenic variants using advanced technology.
Is genetic counseling recommended before or after the test?
Yes, genetic counseling is advised to understand test implications and family risks.
How accurate is the NGS test for PHGDH deficiency?
NGS is highly accurate for detecting genetic changes, even small mutations.
What are the treatment options for PHGDH deficiency?
Treatment focuses on symptom management, including serine supplementation and supportive care.
Is the test covered by health insurance schemes like PMJAY?
Coverage depends on the scheme; check with your provider for eligibility.
How should I prepare for the test?
No special preparation is needed; provide clinical history and attend counseling if scheduled.
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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