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DNA Labs India

GALT Gene Galactosemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GALT Gene Galactosemia NGS Genetic Test

Short Name: GALT Gene Test

Also known as: GALT Gene Analysis, Galactosemia Genetic Screening, GALT NGS Test

GALT Gene Galactosemia 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose galactosemia by identifying mutations in the GALT gene, confirm suspected cases based on symptoms or family history, guide treatment and management strategies, and facilitate genetic counseling for affected families.

Test Code
2000
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 such as fasting is required. Provide clinical history and family pedigree chart as advised during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture by a trained phlebotomist, or a drop of blood on an FTA card can be used.

Step 3

Report Delivery

Apply gentle pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities immediately.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, provide clinical history, and draw a family pedigree chart if applicable.
2
During the Test:Sample collection is quick and minimally invasive, typically taking less than 15 minutes.
3
After the Test:Results will be available in 3-4 weeks via the specified delivery methods. Follow-up counseling is recommended.

About This Test

Who Should Get This Test

To diagnose galactosemia by identifying mutations in the GALT gene, confirm suspected cases based on symptoms or family history, guide treatment and management strategies, and facilitate genetic counseling for affected families.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection equipment
  • Transport samples at ambient room temperature as specified

Doctor's Notes

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

"Early diagnosis of galactosemia via GALT gene testing is essential for initiating dietary management and preventing serious complications like developmental delays and cataracts."

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 blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at 2-8°C
Extracted DNA stable for longer periods under proper storage
Sample Rejection Criteria:
  • Clotted or hemolyzed blood samples
  • Insufficient sample volume
  • Incorrect sample type or container

Understanding Your Results

Results from the GALT Gene Galactosemia NGS Genetic Test indicate the presence or absence of pathogenic mutations in the GALT gene. Positive results confirm a diagnosis of galactosemia, while negative results suggest no known mutations but do not exclude other causes.
Pathogenic variants detected: Confirm galactosemia; recommend dietary management and monitoring
No pathogenic variants detected: Low likelihood of GALT-related galactosemia; consider other diagnostic tests
Variants of uncertain significance: May require further investigation or family studies
Consult a genetic counselor for comprehensive interpretation and family planning advice
⚠️ When to Consult a Doctor:

If the test result is positive, or if symptoms such as jaundice, poor feeding, or developmental delays persist despite negative results, consult a healthcare provider or genetic specialist immediately.

Limitations

  • ⚠Does not detect all possible GALT gene variants
  • ⚠May not identify non-genetic causes of galactosemia
  • ⚠Requires genetic counseling for result interpretation

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Rare risk of infection at puncture site
  • ●No significant risks associated with the genetic test itself

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Recent blood transfusions may affect results
  • ●Technical errors in sample processing

Frequently Asked Questions

What is galactosemia?
Galactosemia is a rare genetic disorder where the body cannot metabolize galactose, a sugar in milk, due to GALT gene mutations, leading to serious health issues if untreated.
Who should consider the GALT Gene Galactosemia NGS Genetic Test?
Individuals with symptoms like jaundice, poor feeding, or developmental delays, those with a family history of galactosemia, or infants with abnormal newborn screening results.
How is the GALT Gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the GALT gene from a blood sample or extracted DNA, detecting mutations associated with galactosemia.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
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.
What do the results mean?
Positive results indicate pathogenic GALT gene mutations confirming galactosemia. Negative results suggest no known mutations, but further evaluation may be needed if symptoms persist.
Is the test covered by insurance in India?
Coverage varies; it is advisable to check with your insurance provider as genetic tests are often not fully covered.
What is the cost of the GALT Gene test in India?
The test costs INR 20000, with discounted pricing and free home sample collection available across many cities in India.
Can I get home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What should I do if the test is positive?
Consult a genetic counselor or healthcare provider immediately to discuss management options, such as a galactose-restricted diet, and for family planning advice.
Does DNA Labs India provide raw data with the test?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report for transparency and further analysis.
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.

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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