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GK Gene Glycerol kinase deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GK Gene Glycerol kinase deficiency NGS Genetic Test

Short Name: GK Gene GKD NGS Test

Also known as: Glycerol Kinase Deficiency, GKD, GK Deficiency

GK Gene Glycerol kinase 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the GK gene to confirm a diagnosis of glycerol kinase deficiency, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.

Test Code
4684
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 special preparation is required. Ensure proper identification and consent.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss the test implications and family history.
2
During the Test:Sample collection procedure involves a simple blood draw or finger prick.
3
After the Test:Wait for results and schedule a follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the GK gene to confirm a diagnosis of glycerol kinase deficiency, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure patient identification
  • Use sterile collection tubes
  • Label samples correctly with patient details
  • Transport samples at recommended temperature

Doctor's Notes

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

"This test is crucial for early diagnosis and management of glycerol kinase deficiency, especially in families with a history of metabolic disorders, enabling timely genetic counseling and intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: Stable at 2-8°C for up to 72 hours
DNA: Stable at room temperature for extended periods
FTA card: Stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improper labeling or identification
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GK gene, aiding in the diagnosis of glycerol kinase deficiency.
Positive result: Pathogenic variant detected, confirming diagnosis of glycerol kinase deficiency
Negative result: No pathogenic variants detected, but clinical correlation is necessary
Variant of uncertain significance (VUS): Further testing or family studies may be required
Carrier status: Identification of heterozygous mutations in females
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as hypoglycemia, seizures, or developmental delays persist, or if there is a family history of metabolic disorders.

Limitations

  • Cannot detect all possible mutations in the GK gene
  • May not identify carriers in all cases due to genetic variability
  • Requires genetic counseling for interpretation
  • Results may take 3 to 4 weeks

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or soreness
  • Rare risk of infection
  • Emotional impact of results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed sample
  • Improper storage conditions

Frequently Asked Questions

What is the GK Gene Glycerol Kinase Deficiency NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the GK gene, which cause glycerol kinase deficiency, a rare metabolic disorder.
What is the cost of this test?
The test costs INR 20000.0, with free home sample collection available across India.
How is the sample collected?
Samples can be collected via blood draw, extracted DNA, or a drop of blood on an FTA card, with home collection options available.
What are the symptoms of glycerol kinase deficiency?
Symptoms include hypoglycemia, seizures, developmental delays, and intellectual disability.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for this genetic test.
Who should take this test?
Individuals with symptoms of glycerol kinase deficiency, a family history of the condition, or those seeking carrier testing.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the GK gene, confirming a diagnosis of glycerol kinase deficiency.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not universally covered. Check with your insurer for details.
Can this test be done at home?
Yes, free home sample collection is available for online bookings in numerous cities across India.
What is the accuracy of the test?
The test uses advanced NGS technology for high accuracy, but genetic counseling is recommended for interpretation.
How do I prepare for the test?
No special preparation is needed. Ensure proper identification and consult a genetic counselor if necessary.
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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LIMS Integration

Your Data Privacy

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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