Skip to main content
DNA Labs India

GALC Gene Krabbe disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GALC Gene Krabbe disease NGS Genetic Test

Short Name: GALC Gene Krabbe Disease Test

Also known as: Globoid Cell Leukodystrophy

GALC Gene Krabbe disease 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 TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To diagnose Krabbe disease by identifying mutations in the GALC gene using Next-Generation Sequencing technology, aiding in early detection and management.

Test Code
4716
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

No special preparation required. Genetic counseling is recommended before testing.

Method: Venipuncture

Step 2

Laboratory Analysis

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

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:Genetic counseling is recommended to understand the implications of testing.
2
During the Test:The sample undergoes DNA extraction and NGS analysis in a certified laboratory.
3
After the Test:Results are reviewed by a geneticist and a detailed report is generated.

About This Test

Who Should Get This Test

To diagnose Krabbe disease by identifying mutations in the GALC gene using Next-Generation Sequencing technology, aiding in early detection and management.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly with patient details
  • Transport samples at ambient temperature

Doctor's Notes

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

"Early genetic testing for Krabbe disease is crucial for timely intervention, family planning, and prenatal counseling."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for extended periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the GALC gene associated with Krabbe disease.
Positive: Pathogenic mutation detected, consistent with Krabbe disease carrier or affected status
Negative: No pathogenic mutations detected, reducing likelihood of Krabbe disease
Variant of uncertain significance: Further testing or family studies may be required for clarification
⚠️ When to Consult a Doctor:

If symptoms of Krabbe disease are present, such as seizures or developmental delays, or if there is a family history, consult a geneticist or pediatrician immediately.

Limitations

  • ⚠Cannot detect all possible mutations in the GALC gene
  • ⚠May require confirmatory testing for variants of uncertain significance

Risks & Considerations

  • ●Minor bruising at the blood draw site
  • ●Rare risk of infection at puncture site

Interfering Factors

  • ●Sample degradation
  • ●Contamination during collection or processing

Compare With Similar Tests

TestGALC Gene Krabbe disease NGS Genetic TestGALC Enzyme Activity AssayNewborn Screening for Krabbe Disease
ComparisonGALC Gene Krabbe disease NGS Genetic TestMeasures enzyme activity but less specific for mutation detection compared to NGSInitial screening test; genetic confirmation with NGS is recommended for positive cases

Frequently Asked Questions

What is Krabbe disease?
Krabbe disease is a rare genetic disorder that affects the nervous system, caused by mutations in the GALC gene leading to enzyme deficiency and myelin destruction.
What causes Krabbe disease?
It is caused by mutations in the GALC gene, which results in a deficiency of the galactosylceramidase enzyme necessary for breaking down fats in the brain.
What are the symptoms of Krabbe disease?
Symptoms include irritability, seizures, muscle stiffness, feeding difficulties in newborns, and loss of developmental milestones, muscle weakness, and vision/hearing loss in older infants.
How is Krabbe disease diagnosed?
Diagnosis involves clinical evaluation, family history, and genetic testing such as the GALC Gene NGS Genetic Test to identify mutations.
What is the GALC Gene NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the GALC gene for mutations associated with Krabbe disease, providing accurate genetic diagnosis.
How much does the test cost?
The GALC Gene Krabbe Disease NGS Genetic Test costs INR 20,000 at DNA Labs India, with free home sample collection available.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What should I do if the test is positive?
If positive, consult a geneticist or pediatrician for further evaluation, management options, and genetic counseling for family planning.
Can Krabbe disease be treated?
There is no cure, but early diagnosis can help manage symptoms through supportive care, physical therapy, and in some cases, stem cell transplantation if detected early.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.