Galactosemia (GALT) Gene Mutation Detection Test
Short Name: GALT Gene Mutation Test
Also known as: GALT Gene Test, Classic Galactosemia Genetic Test, Galactose-1-Phosphate Uridylyltransferase Gene Test, GALT Mutation Analysis
Galactosemia (GALT) Gene Mutation Detection Test test available at DNA Labs India for ₹11,500. Uses PCR Sequencing on Whole Blood samples. Results in Report available within 15 working days from sample receipt at the laboratory. Sample must be collected daily by 11:00 AM for same-day processing initiation.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the Galactosemia (GALT) Gene Mutation Detection Test is to identify mutations in the GALT gene responsible for classic galactosemia. This test is used for confirmatory diagnosis following a positive newborn screening or clinical suspicion, carrier testing for family members, prenatal testing in at-risk families, and genetic counselling to assess recurrence risk. Accurate molecular diagnosis enables timely galactose-restricted dietary intervention to prevent life-threatening complications including liver failure, sepsis, cataracts, and long-term neurological impairment.
- Test Code
- 644
- CPT Code
- 81401
- ICD Code
- E74.21
- Price
- ₹11,500
- Sample Type
- Whole Blood
- Result Time
- Report available within 15 working days from sample receipt at the laboratory. Sample must be collected daily by 11:00 AM for same-day processing initiation.
- Fasting Required
- No
- Method
- PCR Sequencing
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly completed. No fasting is required. Inform the healthcare provider about any recent blood transfusions or medications. The test can be performed at any age, including newborns.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect approximately 4 mL (minimum 2 mL) of whole blood from a vein, typically from the arm, into a Lavender top (EDTA) tube. The procedure takes about 5 to 10 minutes. For newborns, blood may be collected from a heel prick if venous access is difficult.
Report Delivery
Apply gentle pressure with a cotton ball or gauze at the puncture site for a few minutes. The sample is shipped refrigerated and must not be frozen. Mild bruising at the collection site may occur and typically resolves within a few days.
Timeline: Report available within 15 working days from sample receipt at the laboratory. Sample must be collected daily by 11:00 AM for same-day processing initiation.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Galactosemia (GALT) Gene Mutation Detection Test is to identify mutations in the GALT gene responsible for classic galactosemia. This test is used for confirmatory diagnosis following a positive newborn screening or clinical suspicion, carrier testing for family members, prenatal testing in at-risk families, and genetic counselling to assess recurrence risk. Accurate molecular diagnosis enables timely galactose-restricted dietary intervention to prevent life-threatening complications including liver failure, sepsis, cataracts, and long-term neurological impairment.
How to Prepare
- Collect 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube
- Ship the sample refrigerated; do NOT freeze
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
- Clearly label the sample with patient name, date of birth, and sample collection date
- Deliver the sample to the laboratory within the stability window of 1 week under refrigeration
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Galactosemia is one of the conditions routinely screened in newborn screening panels. If a newborn presents with jaundice, feeding difficulties, or hepatomegaly, GALT gene mutation testing should be considered promptly. Early genetic confirmation allows immediate dietary galactose restriction, which is critical in preventing irreversible liver damage, cataracts, and neurodevelopmental delays. I recommend this test for any infant with a positive newborn screening result or a family history of galactosemia. Carrier testing for parents and siblings is also advisable for informed family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in a non-EDTA tube or incorrect container
- Sample volume less than 2 mL
- Frozen sample
- Heavily hemolyzed or clotted sample
- Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)
- Unlabelled or mislabelled sample
Understanding Your Results
No disease-causing mutations were identified in the GALT gene. This result makes classic galactosemia unlikely but does not completely exclude the possibility if clinical suspicion remains high. Further evaluation with enzyme activity assay or additional gene panels may be considered.
Normal / Negative
Two copies of the same pathogenic mutation were identified, confirming a diagnosis of classic galactosemia. Classic galactosemia typically results in severe or near-absent GALT enzyme activity. Immediate dietary galactose restriction is required.
Positive / Affected
Two different pathogenic mutations were identified on the two copies of the GALT gene. This confirms a diagnosis of galactosemia, though clinical severity may vary depending on the specific mutations involved. One variant may be a Duarte variant, leading to a milder phenotype.
Positive / Affected (variable severity)
Only one pathogenic mutation was identified, suggesting the individual is a carrier of galactosemia. Carriers are typically asymptomatic. If clinical symptoms are present, further testing or evaluation of the second allele is recommended.
Carrier
A genetic variant was identified whose clinical significance is currently unknown. Additional family studies, functional analysis, or clinical correlation may be needed to determine whether this variant contributes to the disease phenotype.
Uncertain / Requires further evaluation
Consult a geneticist, metabolic specialist, or pediatrician if your newborn has tested positive on newborn screening for galactosemia, if your child shows symptoms such as jaundice, vomiting, poor feeding, lethargy, hepatomegaly, or developmental delays, or if you have a family history of galactosemia and are planning a pregnancy. Immediate medical attention is recommended if a newborn shows signs of liver failure or sepsis.
Limitations
- ⚠This test detects only known mutations in the GALT gene; novel or rare variants may not be included in the assay panel
- ⚠Does not detect galactosemia caused by mutations in other genes such as GALK1 or GALE
- ⚠Results should always be interpreted in conjunction with clinical findings and biochemical test results
- ⚠Carrier status for large deletions or complex rearrangements may not be fully detected by PCR sequencing alone
- ⚠Genotype-phenotype correlation may not be precise for all mutation combinations
Risks & Considerations
- ●Mild pain or bruising at the blood collection site
- ●Slight risk of infection at the puncture site (standard venipuncture risk)
- ●Psychological impact of a positive diagnosis may require genetic counselling and emotional support
- ●Risk of incidental findings or variants of uncertain significance that may cause anxiety
Interfering Factors
- ●Recent blood transfusion may affect DNA analysis results and may require retesting after an appropriate interval
- ●Degraded or insufficient DNA due to improper sample storage or handling
- ●Contamination of the blood sample during collection or transport
- ●Failure to submit the duly filled Genomics Clinical Information Requisition Form (Form 20)
Compare With Similar Tests
| Test | Galactosemia (GALT) Gene Mutation Detection Test | GALT Enzyme Activity Assay | Galactose-1-Phosphate Level | Newborn Screening Panel |
|---|---|---|---|---|
| Comparison | Galactosemia (GALT) Gene Mutation Detection Test | The enzyme activity assay measures the functional level of the GALT enzyme in red blood cells. It is typically the first-line test used in newborn screening. The GALT gene mutation test provides molecular confirmation by identifying the specific genetic mutations and is more informative for carrier detection and genetic counselling. | This biochemical test measures the accumulated metabolite galactose-1-phosphate in blood. Elevated levels support a diagnosis of galactosemia but do not identify the specific genetic cause. The GALT gene mutation test complements this by providing a definitive molecular diagnosis. | A comprehensive newborn screening panel includes galactosemia screening along with other metabolic and genetic conditions. If the screening result is abnormal, the GALT gene mutation test is used for confirmatory molecular diagnosis. |
Frequently Asked Questions
What is the Galactosemia (GALT) Gene Mutation Detection Test?
Why is the GALT gene mutation test important for newborns?
What sample is required for this test?
What is the cost of the Galactosemia GALT Gene Mutation Detection Test in India?
How long does it take to get the test results?
Is fasting required before the test?
What does it mean if my child is a carrier of a GALT mutation?
Can this test detect all types of galactosemia?
What is the most common GALT mutation detected by this test?
Is home sample collection available for this test?
Can this test be used for carrier testing or prenatal diagnosis?
What should I do if the test confirms my child has galactosemia?
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