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MYO5B Gene Diarrhea type 2 with microvillus atrophy NGS Genetic Test

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MYO5B Gene Diarrhea type 2 with microvillus atrophy NGS Genetic Test

Short Name: MYO5B NGS Genetic Test

Also known as: Microvillus Inclusion Disease (MVID), Congenital Microvillus Atrophy

MYO5B Gene Diarrhea type 2 with microvillus atrophy 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestInfants and Pediatric🏠 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

The purpose of the MYO5B Gene NGS Genetic Test is to detect pathogenic mutations in the MYO5B gene for the diagnosis of Diarrhea Type 2 with Microvillus Atrophy (Microvillus Inclusion Disease). This test aids in confirming the genetic basis of the condition, enabling appropriate medical management, nutritional support, and family planning counseling.

Test Code
4893
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Ensure clinical history and pedigree chart are prepared for genetic counseling.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to the lab under ambient room temperature. Follow-up genetic counseling recommended.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Report generation and delivery, followed by genetic counseling for result interpretation.

About This Test

Who Should Get This Test

The purpose of the MYO5B Gene NGS Genetic Test is to detect pathogenic mutations in the MYO5B gene for the diagnosis of Diarrhea Type 2 with Microvillus Atrophy (Microvillus Inclusion Disease). This test aids in confirming the genetic basis of the condition, enabling appropriate medical management, nutritional support, and family planning counseling.

How to Prepare

  • Provide clinical history and family pedigree
  • Use sterile collection equipment
  • Label samples accurately
  • Transport at room temperature

Doctor's Notes

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

"Early genetic testing for MYO5B mutations is crucial for managing microvillus inclusion disease in infants, enabling timely intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect labeling
  • Insufficient sample volume
  • Contaminated sample

Understanding Your Results

Results from the MYO5B Gene NGS Genetic Test indicate the presence or absence of pathogenic mutations in the MYO5B gene. Positive results confirm a diagnosis of Microvillus Inclusion Disease, while negative results may require further testing or clinical evaluation.
Positive result: Pathogenic mutation detected, confirming MVID diagnosis
Negative result: No pathogenic variants found, consider other causes
Variant of uncertain significance: Requires further analysis and genetic counseling
Consult a geneticist for comprehensive interpretation and management plans
⚠️ When to Consult a Doctor:

Consult a doctor if the test is positive, symptoms persist, or for guidance on treatment and family planning. Genetic counseling is recommended for all cases.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings
  • ⚠Not a standalone diagnostic tool without clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage or handling
  • ●Hemolyzed blood sample
  • ●Insufficient DNA quantity

Compare With Similar Tests

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ComparisonMYO5B Gene Diarrhea type 2 with microvillus atrophy NGS Genetic Test

Frequently Asked Questions

What is the MYO5B Gene Diarrhea Type 2 with Microvillus Atrophy NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the MYO5B gene, which causes Microvillus Inclusion Disease, a severe diarrhea condition in infants.
Who should take this test?
Infants with chronic watery diarrhea, failure to thrive, or a family history of Microvillus Inclusion Disease should consider this test for diagnosis.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
How is the sample collected?
A blood sample is collected via venipuncture or a blood drop on an FTA card by a trained professional.
Is fasting required before the test?
No, fasting is not required. The test can be done at any time with ambient room temperature preparation.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms mutations in the MYO5B gene, diagnosing Microvillus Inclusion Disease, which requires medical management and genetic counseling.
Is the test accurate?
Yes, NGS technology provides high accuracy in detecting genetic mutations, but results should be interpreted by a genetic specialist.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic results may have psychological implications, so counseling is recommended.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What should I do after receiving the results?
Consult a geneticist or healthcare provider for interpretation, management options, and family planning advice.
Is genetic counseling included?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss test implications before and after the test.
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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