GALC Gene Krabbe disease NGS Genetic Test
Short Name: Krabbe Disease NGS Test
Also known as: GALC Gene Mutation Analysis, Krabbe Disease Genetic Test, Globoid Cell Leukodystrophy NGS Panel
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 The results are typically available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify disease-causing mutations in the GALC gene that are responsible for Krabbe disease. It is also used for carrier screening in at-risk individuals and for prenatal diagnosis in families with known mutations, thereby helping in clinical diagnosis, prognosis, and reproductive decision-making.
- Test Code
- 4162
- CPT Code
- N/A
- ICD Code
- E75.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The results are typically available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. However, it is essential to provide a complete clinical history and any available family pedigree to the genetic counselor before sample collection.
Method: Venipuncture or FTA Card Blood Spot
Laboratory Analysis
A clean venipuncture or FTA card blood spot collection is performed by a trained phlebotomist. For FTA card collection, a single drop of blood is sufficient.
Report Delivery
No special precautions are needed. You can resume your regular activities immediately after the sample collection.
Timeline: The results are typically available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing mutations in the GALC gene that are responsible for Krabbe disease. It is also used for carrier screening in at-risk individuals and for prenatal diagnosis in families with known mutations, thereby helping in clinical diagnosis, prognosis, and reproductive decision-making.
How to Prepare
- Please carry a valid government-issued ID for verification.
- Provide details of any prior genetic testing or enzyme assay results.
- Ensure the blood sample is collected in an EDTA vacutainer or on a properly labeled FTA card.
- The sample should be sent to the laboratory within 24 hours of collection if stored at room temperature, or within 72 hours if refrigerated.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This molecular diagnostic test plays a pivotal role in confirming Krabbe disease in symptomatic children and in enabling accurate recurrence risk counselling for families planning future pregnancies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples that compromise DNA quality.
- Insufficient sample volume and inadequate blood spot on FTA card.
- Samples with incorrect labeling or missing requisition form.
Understanding Your Results
Pathogenic variant detected (homozygous or compound heterozygous)
Confirms the diagnosis of Krabbe disease in a symptomatic individual. Both parents are likely carriers.
Pathogenic variant detected (heterozygous)
Indicates carrier status; individual does not typically show symptoms, but there is a risk of passing the variant to offspring.
No pathogenic variants detected
The individual is unlikely to have Krabbe disease if the clinical suspicion is low; however, if enzyme assay is very low, further analysis may be required.
Variant of Uncertain Significance (VUS)
The clinical significance is unknown; additional testing of family members and further functional studies may be recommended.
Consult a clinical geneticist, neurologist, or a genetic counselor for pre-test and post-test counseling. If the test is positive, consultation is urgent to discuss treatment options and family implications.
Limitations
- ⚠NGS may not detect large genomic rearrangements, repeat expansions, or deep intronic mutations in all cases.
- ⚠Somatic mosaicism at a low percentage may not be reliably detected.
- ⚠Variants of uncertain significance (VUS) may require additional family studies to interpret.
- ⚠This test does not measure GALC enzyme activity; a functional assay may be recommended in combination.
Risks & Considerations
- ●No major physical risks are associated with blood sample collection.
- ●Possible bruising or discomfort at the venipuncture site.
- ●Psychological impact from a positive result, which is mitigated by pre and post-test genetic counseling.
Interfering Factors
- ●Poor quality or degraded DNA samples may reduce sequencing accuracy.
- ●Insufficient blood or FTA card samples can lead to failure in DNA extraction.
- ●Contamination of sample with exogenous DNA may interfere with variant detection.
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Frequently Asked Questions
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