LCT Gene Lactase deficiency, congenital NGS Genetic Test
Short Name: LCT Gene NGS Test
Also known as: Lactose Intolerance Genetic Test, LCT Mutation Analysis, Congenital Alactasia Test
LCT Gene Lactase deficiency, congenital 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 Reports are typically available within 3 to 4 weeks after sample receipt.. 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 this test is to diagnose congenital lactase deficiency by detecting pathogenic mutations in the LCT gene using NGS technology. It helps in confirming the condition in symptomatic patients, identifying asymptomatic carriers for family planning, and informing personalized management plans including lactose-free diets and nutritional support.
- Test Code
- 2121
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Inform the healthcare provider about any medications or medical history.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using a needle. For FTA card, a small drop of blood is collected on the card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities. Results will be available in 3-4 weeks.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose congenital lactase deficiency by detecting pathogenic mutations in the LCT gene using NGS technology. It helps in confirming the condition in symptomatic patients, identifying asymptomatic carriers for family planning, and informing personalized management plans including lactose-free diets and nutritional support.
How to Prepare
- Ensure proper identification of the patient
- Use aseptic technique during blood draw
- Label samples correctly with patient details
- Transport samples at ambient temperature unless specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for early identification and management of congenital lactase deficiency, especially in families with a history of metabolic disorders or infants showing symptoms of lactose intolerance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Contaminated or degraded samples
Understanding Your Results
Pathogenic variants detected
Confirms diagnosis of congenital lactase deficiency. Recommend dietary modifications and genetic counseling.
No pathogenic variants detected
No mutations identified; symptoms may be due to other causes. Consider additional tests for lactose intolerance.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed for clarification. Consult a geneticist.
Consult a doctor if you or your child experience persistent digestive symptoms after dairy intake, have a family history of lactose intolerance, or require genetic counseling for family planning.
Limitations
- ⚠May not detect all possible genetic variants in the LCT gene
- ⚠Results require interpretation by a qualified geneticist
- ⚠Does not assess acquired lactase deficiency or other causes of lactose intolerance
- ⚠Carrier status may not predict clinical severity accurately
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Genetic discrimination concerns, though mitigated by privacy laws
- ●Emotional impact of genetic diagnosis, requiring counseling support
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Presence of inhibitors in blood samples
- ●Technical errors in NGS library preparation
Compare With Similar Tests
| Test | LCT Gene Lactase deficiency, congenital NGS Genetic Test | Lactose Tolerance Test | Hydrogen Breath Test | Stool Acidity Test | Genetic Panel for Metabolic Disorders |
|---|---|---|---|---|---|
| Comparison | LCT Gene Lactase deficiency, congenital NGS Genetic Test |
Frequently Asked Questions
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