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GALE Gene Galactose epimerase deficiency NGS Genetic Test

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GALE Gene Galactose epimerase deficiency NGS Genetic Test

Short Name: GALE Gene NGS Test

Also known as: Galactose epimerase deficiency, GALE gene deficiency

GALE Gene Galactose epimerase deficiency 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To diagnose galactose epimerase deficiency by detecting pathogenic mutations in the GALE gene using next-generation sequencing, aiding in early intervention and family planning.

Test Code
1998
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

Genetic counseling is recommended to understand the test implications. Provide detailed clinical history and family pedigree chart.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Standard blood draw procedure; for FTA card, a single drop of blood is sufficient.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per instructions.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test rationale and implications. No special preparation required.
2
During the Test:Sample collection via blood draw or FTA card. Minimal discomfort.
3
After the Test:Monitor for any post-procedure side effects. Await results as per turnaround time.

About This Test

Who Should Get This Test

To diagnose galactose epimerase deficiency by detecting pathogenic mutations in the GALE gene using next-generation sequencing, aiding in early intervention and family planning.

How to Prepare

  • No specific fasting required
  • Bring referral form and identification
  • Ensure proper labeling of samples

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This NGS genetic test is essential for accurate diagnosis and management of galactose epimerase deficiency, especially in families with a history of metabolic disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood (if applicable)
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled containers

Understanding Your Results

Results indicate the presence or absence of mutations in the GALE gene. Positive results confirm galactose epimerase deficiency, while negative results may suggest other causes.
📊

Positive for pathogenic variant

Confirms diagnosis of galactose epimerase deficiency; refer to specialist for management.

📊

Negative for pathogenic variant

No mutation detected in GALE gene; consider other diagnoses if symptoms persist.

📊

Variant of uncertain significance

Further testing and clinical correlation recommended; genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you have symptoms of galactose epimerase deficiency, a family history, or if test results are positive or uncertain.

Limitations

  • ⚠May not detect all possible variants or epigenetic changes
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical and biochemical findings

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, pain, or rare infection
  • ●No significant risks from genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is galactose epimerase deficiency?
It is a rare genetic disorder caused by mutations in the GALE gene, leading to impaired conversion of galactose to glucose and toxic buildup in the body.
What are the common symptoms of GALE gene deficiency?
Symptoms include jaundice, liver dysfunction, hypoglycemia, mental retardation, developmental delay, failure to thrive, cataracts, seizures, and muscle weakness.
How is galactose epimerase deficiency diagnosed?
Diagnosis involves clinical evaluation, biochemical tests, and genetic testing. NGS analysis of the GALE gene is the definitive method.
What is the cost of the GALE Gene NGS Genetic Test?
The test costs INR 20,000 in India, with free home sample collection available across many cities.
Is this test covered by insurance?
Coverage varies; check with your insurance provider. Many may cover it if there is a family history or symptoms.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection, which are rare.
Who should consider this test?
Individuals with symptoms, family history of galactose epimerase deficiency, or those recommended by a healthcare provider.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be interpreted in conjunction with clinical findings.
What should I do after receiving test results?
Consult a genetic counselor or healthcare provider to understand the results and discuss management options.
Does DNA Labs India provide raw data with the report?
Yes, DNA Labs India shares raw data, FASTQ, and VCF files along with the clinical report for transparency.
Is genetic counseling required before or after the test?
Yes, genetic counseling is recommended before the test to understand implications and after to interpret results and discuss next steps.
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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