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PHKG2 Gene Glycogen storage disease type 9C NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PHKG2 Gene Glycogen storage disease type 9C NGS Genetic Test

Short Name: PHKG2 GSD 9C NGS Test

Also known as: Glycogen Storage Disease Type 9C, GSD Type 9C, PHKG2-related Glycogen Storage Disease

PHKG2 Gene Glycogen storage disease type 9C 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.

Genetic TestAll Ages🏠 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

To identify pathogenic mutations in the PHKG2 gene for the diagnosis of Glycogen Storage Disease Type 9C, facilitating early intervention, genetic counseling, and personalized management.

Test Code
2035
ICD Code
E74.09
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

Obtain clinical history of the patient and conduct a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Collect blood sample via venipuncture or one drop on FTA card under sterile conditions.

Step 3

Report Delivery

Label and transport the sample to the lab at ambient room temperature. Provide post-test counseling.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Pre-test information includes clinical history review and genetic counseling session.
2
During the Test:During the test, a blood or DNA sample is collected and analyzed using NGS technology.
3
After the Test:After the test, samples are processed, and reports are generated within 3-4 weeks with genetic counseling recommended.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the PHKG2 gene for the diagnosis of Glycogen Storage Disease Type 9C, facilitating early intervention, genetic counseling, and personalized management.

How to Prepare

  • Use sterile equipment for sample collection
  • Ensure proper labeling with patient details
  • Follow transport guidelines for sample stability

Doctor's Notes

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

"Early genetic testing is crucial for diagnosing metabolic disorders like GSD type 9C. Genetic counseling helps families understand inheritance risks and management options for better outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for 1 week at 4°C
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the PHKG2 gene. A positive result confirms GSD type 9C diagnosis, while a negative result suggests low probability but does not exclude other genetic causes.
Mutation detected: Diagnosis of Glycogen Storage Disease Type 9C confirmed; initiate management and genetic counseling.
No mutation detected: Low likelihood of GSD type 9C; consider other diagnostic tests if symptoms persist.
Variant of uncertain significance: Further testing and family studies recommended.
Carrier status: Genetic counseling for family planning advised.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms like hypoglycemia, liver enlargement, or growth delays occur, or for genetic counseling after test results.

Limitations

  • ⚠May not detect all types of PHKG2 gene mutations, such as large deletions or duplications
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other metabolic disorders with similar symptoms

Risks & Considerations

  • ●Minor discomfort or bruising from blood draw
  • ●Psychological impact of test results, such as anxiety or stress
  • ●Potential for inconclusive results requiring further testing

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incorrect sample type or handling
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is Glycogen Storage Disease Type 9C?
It is a genetic disorder caused by mutations in the PHKG2 gene, leading to impaired glycogen breakdown and storage, primarily affecting the liver and muscles.
What are the common symptoms of GSD type 9C?
Symptoms include low blood sugar (hypoglycemia), enlarged liver, muscle weakness, delayed growth, seizures, and abnormal heart rhythms.
How is GSD type 9C diagnosed?
Diagnosis is confirmed through genetic testing, specifically the PHKG2 Gene NGS Genetic Test, which detects mutations in the PHKG2 gene.
What does the NGS Genetic Test involve?
The test uses next-generation sequencing to analyze DNA from a blood or extracted DNA sample, identifying mutations in the PHKG2 gene with high accuracy.
What is the cost of the PHKG2 Gene NGS Genetic Test?
The cost is INR 20,000 at DNA Labs India, which includes sample collection, analysis, and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India, including major cities.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What should I do before getting tested?
Before testing, provide clinical history and undergo a genetic counseling session to draw a family pedigree chart.
Is the test painful?
The test involves a simple blood draw or finger prick, which may cause minimal discomfort but is generally painless.
Can GSD type 9C be treated?
While there is no cure, management includes dietary modifications, frequent meals to avoid hypoglycemia, and monitoring for complications, guided by genetic diagnosis.
Why is genetic counseling important for this test?
Genetic counseling helps interpret test results, understand inheritance patterns, assess family risks, and plan for management or family planning.
What if the test result is negative?
A negative result means no PHKG2 mutations were detected, but if symptoms persist, other genetic or metabolic disorders should be considered with further testing.
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

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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