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GALK1 Gene Galactokinase deficiency NGS Genetic Test

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GALK1 Gene Galactokinase deficiency NGS Genetic Test

Short Name: GALK1 NGS Genetic Test

Also known as: Galactosemia Type II Genetic Test, GALK1 Gene Sequencing Test, Galactokinase Deficiency DNA Test, GALK1 Mutation Analysis Test, GALK1 NGS Panel

GALK1 Gene Galactokinase 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 Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are accessible through the DNA Labs India online portal, and are also sent via email and WhatsApp for convenience.. Free home collection in 300+ cities across India.

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 identify pathogenic mutations in the GALK1 gene for definitive diagnosis of galactokinase deficiency (galactosemia type II), enabling early dietary intervention, carrier screening for family members, and prevention of complications such as bilateral cataracts and neurodevelopmental issues.

Test Code
2010
CPT Code
81405
ICD Code
E74.21
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are accessible through the DNA Labs India online portal, and are also sent via email and WhatsApp for convenience.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counseling session is recommended before sample collection to draw a pedigree chart of family members affected with galactokinase deficiency. Provide complete clinical history of the patient including onset of symptoms, family history, consanguinity, and any prior newborn screening results. No fasting is required. Inform the laboratory of any recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure is followed. Approximately 3–5 mL of whole blood is collected in an EDTA (lavender top) tube. Alternatively, one drop of blood on an FTA card or an extracted DNA sample may be submitted. Ensure proper labeling of the sample with patient details.

Step 3

Report Delivery

The sample is transported to the laboratory under ambient room temperature. Results are available in 3 to 4 weeks. Reports are delivered through the online portal, email, and WhatsApp. A follow-up genetic counseling session is recommended to interpret the results and discuss management options.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are accessible through the DNA Labs India online portal, and are also sent via email and WhatsApp for convenience.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to review family history and draw a pedigree chart. Provide clinical history including symptoms onset, newborn screening results, and consanguinity status. No fasting is required. If the patient has had a recent blood transfusion, inform the laboratory as it may affect results.
2
During the Test:A blood sample of approximately 3–5 mL is collected via venipuncture into an EDTA tube. The procedure is quick and similar to a routine blood draw. Minimal discomfort may be experienced at the puncture site. Alternative sample types such as extracted DNA or an FTA card may also be used.
3
After the Test:Apply gentle pressure to the puncture site with a cotton ball. Results will be available in 3 to 4 weeks and will be delivered through the online portal, email, and WhatsApp. A follow-up genetic counseling session is recommended to discuss the results, their implications, and appropriate management or treatment options.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the GALK1 gene for definitive diagnosis of galactokinase deficiency (galactosemia type II), enabling early dietary intervention, carrier screening for family members, and prevention of complications such as bilateral cataracts and neurodevelopmental issues.

How to Prepare

  • No fasting or special preparation is required before sample collection
  • Provide a completed test requisition form with patient clinical history
  • Ensure genetic counseling has been completed and a pedigree chart is available
  • Blood should be collected in an EDTA (lavender top) tube under aseptic conditions
  • Clearly label the sample with patient name, date of birth, and unique ID
  • Transport the sample at ambient room temperature to the laboratory
  • Inform the laboratory if the patient has had a recent blood transfusion

Doctor's Notes

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

"Galactokinase deficiency is often underdiagnosed because its hallmark presentation — early-onset bilateral cataracts in infants — may not immediately prompt metabolic investigation. As an obstetrician, I routinely recommend this GALK1 gene test for families with a history of unexplained neonatal cataracts, jaundice, or confirmed galactosemia. Early identification through NGS testing allows immediate galactose-restricted dietary intervention, which can effectively prevent cataract progression and improve long-term outcomes. Carrier testing is also valuable for couples planning pregnancies, especially in consanguineous families."

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 whole blood
ContainerEDTA (Lavender Top) Tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Samples received without proper labeling or identification
  • Samples with insufficient volume for DNA extraction
  • Samples collected in incorrect tube type (non-EDTA for whole blood)
  • Contaminated or leaking sample containers
  • Samples without a completed requisition form or clinical history

Understanding Your Results

The GALK1 Gene Galactokinase Deficiency NGS Genetic Test identifies mutations in the GALK1 gene to confirm or rule out galactokinase deficiency (galactosemia type II). Results should be interpreted by a qualified geneticist or metabolic disease specialist in the context of the patient's clinical presentation, family history, and biochemical findings.
📊

No pathogenic or likely pathogenic variants detected

Normal / Negative

📊

One pathogenic or likely pathogenic variant detected (heterozygous)

Carrier status

📊

Two pathogenic or likely pathogenic variants detected (homozygous or compound heterozygous)

Affected / Positive

📊

Variant(s) of Uncertain Significance (VUS) detected

Inconclusive

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or metabolic disease specialist if pathogenic or likely pathogenic variants are identified in the GALK1 gene, especially in the presence of unexplained infantile cataracts, jaundice, elevated galactose levels, failure to thrive, or developmental delays. Immediate medical attention is warranted for symptomatic neonates to initiate galactose-restricted dietary intervention and prevent irreversible complications.

Limitations

  • ⚠This test does not detect large genomic deletions, duplications, or structural rearrangements in the GALK1 gene
  • ⚠Variants of uncertain significance (VUS) may be identified and may require further family studies for interpretation
  • ⚠This test does not evaluate genes associated with other forms of galactosemia (GALT, GALE)
  • ⚠A negative result does not completely exclude galactokinase deficiency if caused by deep intronic or regulatory region variants not covered by this assay
  • ⚠Results should always be interpreted in conjunction with clinical findings and biochemical test results

Risks & Considerations

  • ●Minimal risk associated with blood draw, including mild pain, bruising, or swelling at the puncture site
  • ●Very rare risk of infection at the venipuncture site
  • ●Possibility of identifying variants of uncertain significance (VUS) which may cause psychological distress
  • ●Potential for incidental findings unrelated to galactokinase deficiency, though this is uncommon for targeted gene analysis
  • ●Risk of misinterpretation without proper genetic counseling

Interfering Factors

  • ●Hemolyzed blood samples may reduce DNA quality and affect sequencing results
  • ●Recent blood transfusion within the past 4 weeks may yield donor DNA contamination
  • ●Insufficient sample volume may result in inadequate DNA for NGS library preparation
  • ●Degraded DNA from improper sample storage or transport may compromise results
  • ●Bone marrow transplant recipients may have donor-derived DNA in circulation

Compare With Similar Tests

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Frequently Asked Questions

What is the GALK1 Gene Galactokinase Deficiency NGS Genetic Test?
This is a next-generation sequencing (NGS) based genetic test that analyzes the GALK1 gene to identify mutations responsible for galactokinase deficiency, also known as galactosemia type II. The test detects single nucleotide variants, small insertions, and deletions across the entire coding region and flanking intronic sequences of the GALK1 gene with high sensitivity and specificity.
Why is the GALK1 NGS Genetic Test recommended?
This test is recommended for individuals presenting with early-onset bilateral cataracts, unexplained neonatal jaundice, elevated galactose levels on newborn screening, or failure to thrive. It is also indicated for carrier testing in families with a known history of galactokinase deficiency and for confirmatory diagnosis following positive newborn screening results.
What sample is required for this genetic test?
The test requires either 3–5 mL of whole blood collected in an EDTA (lavender top) tube via venipuncture, an extracted DNA sample, or one drop of blood on an FTA card. Free home sample collection is available across India through DNA Labs India.
How long does it take to get the GALK1 test results?
Results are typically available within 3 to 4 weeks from the date of sample collection. Reports are delivered through the DNA Labs India online portal, email, and WhatsApp for patient convenience.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the GALK1 Gene Galactokinase Deficiency NGS Genetic Test in all major cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, Lucknow, and many more.
What is the cost of the GALK1 NGS Genetic Test?
The test is available at a special discounted price of INR 20,000. This cost includes NGS analysis, clinical report with variant interpretation, raw data files (FASTQ and VCF), a genetic counseling session, and free home sample collection.
What are the symptoms of galactokinase deficiency?
Galactokinase deficiency typically presents in infancy with bilateral cataracts as the hallmark feature. Other symptoms may include neonatal jaundice, hepatomegaly, poor weight gain, vomiting, diarrhea, irritability, and developmental delays. Pseudotumor cerebri (increased intracranial pressure) may also occur in some cases.
How is galactokinase deficiency inherited?
Galactokinase deficiency follows an autosomal recessive inheritance pattern. This means both parents must carry at least one mutated copy of the GALK1 gene. Each child born to two carrier parents has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and not a carrier.
Can galactokinase deficiency be treated?
Yes. The primary treatment is a galactose-restricted diet, which eliminates or significantly reduces galactose intake. Early diagnosis and dietary intervention can prevent cataract formation and halt disease progression. Regular ophthalmologic monitoring is also recommended to track lens health. Genetic counseling is advised for ongoing family management.
What is the difference between galactokinase deficiency and classic galactosemia?
Classic galactosemia is caused by mutations in the GALT gene and is more severe, potentially affecting the liver, brain, kidneys, and reproductive system. Galactokinase deficiency (GALK1 mutations) primarily causes cataracts and is generally milder. Both conditions require galactose restriction, but classic galactosemia demands more comprehensive and lifelong metabolic management.
Is genetic counseling recommended before and after this test?
Yes, DNA Labs India strongly recommends a genetic counseling session before testing to draw a pedigree chart, review family history, and discuss the implications of possible results. A post-test counseling session is equally important to interpret findings, understand inheritance risks, and plan appropriate management or surveillance.
Will I receive raw genetic data files along with my test report?
Yes. DNA Labs India is the only laboratory in India that provides raw data files — including FASTQ and VCF files — alongside the conclusive clinical test report. This ensures complete transparency and allows independent verification or re-analysis if needed by your geneticist or healthcare provider.
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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