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SI Gene Sucrase-isomaltase deficiency NGS Genetic Test

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SI Gene Sucrase-isomaltase deficiency NGS Genetic Test

Short Name: SI Gene Test

Also known as: Sucrase-isomaltase deficiency genetic test, SI gene mutation analysis

SI Gene Sucrase-isomaltase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

Genetic🏠 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 detect mutations in the SI gene responsible for sucrase-isomaltase deficiency, aiding in accurate diagnosis and personalized management strategies for patients with digestive symptoms.

Test Code
2247
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Ensure genetic counseling session is scheduled to discuss family history and implications.

Method: Venipuncture for blood; provided for DNA/FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card with single drop.

Step 3

Report Delivery

Store samples at ambient temperature and transport to lab promptly.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling to review family history and understand test implications.
2
During the Test:Simple blood draw or sample collection with minimal discomfort.
3
After the Test:Results analyzed and reported; follow-up counseling recommended.

About This Test

Who Should Get This Test

To detect mutations in the SI gene responsible for sucrase-isomaltase deficiency, aiding in accurate diagnosis and personalized management strategies for patients with digestive symptoms.

How to Prepare

  • Collect blood sample via standard venipuncture
  • For FTA card, apply one drop of blood and air-dry
  • Label samples correctly with patient details

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing sucrase-isomaltase deficiency, enabling dietary adjustments and improved quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodVenipuncture for blood; provided for DNA/FTA card

Sample Stability

Blood: Stable at 2-8°C for 48 hours
Extracted DNA: Stable at room temperature for extended periods
FTA card: Stable at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood samples
  • Insufficient sample volume
  • Incorrectly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SI gene, guiding diagnosis and management of sucrase-isomaltase deficiency.
📊

Positive for pathogenic variant

Confirms diagnosis of sucrase-isomaltase deficiency; recommend dietary modifications and specialist consultation

📊

Negative for pathogenic variants

No genetic cause identified; consider other diagnostic tests and clinical correlation

⚠️ When to Consult a Doctor:

Consult a gastroenterologist or geneticist if symptoms persist, test is positive, or for family planning advice.

Limitations

  • ⚠May not detect all rare mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Cannot assess environmental factors

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Potential psychological impact of genetic results
  • ●Privacy concerns with genetic data

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusion

Compare With Similar Tests

TestSI Gene Sucrase-isomaltase deficiency NGS Genetic TestLactose Intolerance Genetic TestCeliac Disease Genetic TestFructose Malabsorption Test
ComparisonSI Gene Sucrase-isomaltase deficiency NGS Genetic Test

Frequently Asked Questions

What is SI Gene Sucrase-isomaltase deficiency?
It is a genetic disorder where the body lacks the sucrase-isomaltase enzyme needed to break down sucrose and maltose, leading to digestive symptoms.
What are the common symptoms?
Symptoms include abdominal pain, bloating, diarrhea, flatulence, and nausea, often triggered by sugar intake.
How is this condition diagnosed?
Diagnosis can involve blood tests, stool tests, breath tests, endoscopy, or genetic testing, with genetic testing being the most accurate.
What is the cost of the genetic test?
The NGS Genetic Test costs INR 20,000, including test cost and counseling support.
How long does it take to get results?
Results are typically available in 3 to 4 weeks from sample collection.
Is the test covered by insurance?
Coverage varies; it's not typically covered by government schemes, but check with private insurers.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is home sample collection available?
Yes, free home collection is available for online bookings across India.
What do positive results mean?
Positive results indicate mutations in the SI gene, confirming sucrase-isomaltase deficiency and guiding dietary management.
Can this disorder be prevented?
It is genetic and cannot be prevented, but early diagnosis helps manage symptoms effectively.
Who should consider getting tested?
Individuals with chronic digestive symptoms, family history of the condition, or unexplained nutritional deficiencies.
How accurate is the genetic test?
The NGS-based test is highly accurate for detecting pathogenic variants in the SI gene, but genetic counseling is essential for interpretation.
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.

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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