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SLC5A1 Gene Glucose/Galactose malabsorption NGS Genetic Test

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SLC5A1 Gene Glucose/Galactose malabsorption NGS Genetic Test

Short Name: SLC5A1 Gene Test

Also known as: SLC5A1 Gene Test, Glucose/Galactose Malabsorption NGS Test

SLC5A1 Gene Glucose/Galactose malabsorption 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 3-4 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 identify mutations in the SLC5A1 gene causing glucose/galactose malabsorption for accurate diagnosis, management, and genetic counseling.

Test Code
2005
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Consult with a genetic counselor to provide detailed clinical and family history, and ensure informed consent.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

Sample collection performed by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; keep the area clean.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Consult a genetic counselor, provide medical history, and ensure sample collection arrangements.
2
During the Test:Blood sample is drawn or DNA extracted; sample is sent to the lab for NGS analysis.
3
After the Test:Wait for 3-4 weeks for results; genetic counseling to discuss findings.

About This Test

Who Should Get This Test

To identify mutations in the SLC5A1 gene causing glucose/galactose malabsorption for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Bring a valid ID and doctor's prescription
  • Ensure the sample is correctly labeled with patient details
  • For blood collection, no fasting is required
  • For FTA card, follow instructions for finger prick

Doctor's Notes

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

"Early genetic testing for SLC5A1 mutations can guide management, such as dietary changes, and aid in family planning for at-risk couples."

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
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood in EDTA tube
FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect sample container
  • Missing patient information or consent
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SLC5A1 gene. Genetic counseling is recommended for interpretation.
Positive result: One or more pathogenic variants detected, confirming diagnosis.
Negative result: No pathogenic variants found; clinical correlation advised.
Variant of uncertain significance (VUS): Requires further investigation.
Carrier status: Indicates heterozygous mutation, may require family testing.
⚠️ When to Consult a Doctor:

If symptoms persist after dietary changes, or for family planning if a carrier or affected status is identified.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Cannot determine the severity or prognosis of the disorder
  • ⚠Requires genetic interpretation by a qualified specialist
  • ⚠False negatives possible in rare cases

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume
  • ●Recent blood transfusion affecting DNA
  • ●Improper sample storage

Compare With Similar Tests

TestSLC5A1 Gene Glucose/Galactose malabsorption NGS Genetic TestLactose Intolerance Genetic TestCystic Fibrosis Gene TestGastrointestinal Panel
ComparisonSLC5A1 Gene Glucose/Galactose malabsorption NGS Genetic Test

Frequently Asked Questions

What is the SLC5A1 gene test?
It is an NGS genetic test that analyzes the SLC5A1 gene for mutations causing glucose/galactose malabsorption.
Who should consider this test?
Individuals with symptoms like chronic diarrhea, abdominal pain after glucose intake, or a family history of the disorder.
How is the test performed?
A blood sample or DNA is collected and analyzed using next-generation sequencing technology.
What are the common symptoms of glucose/galactose malabsorption?
Symptoms include diarrhea, bloating, flatulence, abdominal pain, and failure to thrive in infants.
How accurate is the NGS genetic test?
The test has over 99% sensitivity for detecting pathogenic variants in the SLC5A1 gene.
What is the cost of the test?
The test costs INR 20000, with home sample collection available across India.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection in major cities across India.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What do the test results indicate?
Results show if pathogenic mutations are present, confirming the diagnosis or carrier status.
Is genetic counseling recommended before or after the test?
Yes, genetic counseling is recommended to understand the implications and for family planning.
Can this test be used for prenatal diagnosis?
It can be part of prenatal genetic testing if there is a known family history, but consult a genetic specialist.
What are the treatment options after diagnosis?
Management includes dietary restrictions, such as a galactose-free and glucose-restricted diet, under medical supervision.
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.
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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