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DNA Labs India

MSMO1 Gene Microcephaly, MSMO1 related NGS Genetic Test

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MSMO1 Gene Microcephaly, MSMO1 related NGS Genetic Test

Short Name: MSMO1 Gene Microcephaly Test

Also known as: MSMO1 gene test, Microcephaly genetic test, Cholesterol metabolism disorder test

MSMO1 Gene Microcephaly, MSMO1 related 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.

Pediatrics🏠 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 MSMO1 Gene Microcephaly NGS Genetic Test is to diagnose genetic mutations in the MSMO1 gene that cause microcephaly, aiding in clinical diagnosis, family carrier screening, and guiding treatment and management strategies for affected individuals.

Test Code
2766
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 is required. Ensure genetic counseling is scheduled to discuss test implications and family history.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a saliva/FTA card sample may be collected as per instructions.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. Resume normal activities unless otherwise advised.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test purpose, implications, and family pedigree chart preparation.
2
During the Test:Sample collection via blood draw or alternative methods as specified.
3
After the Test:Results delivered in 3-4 weeks; follow-up counseling recommended for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the MSMO1 Gene Microcephaly NGS Genetic Test is to diagnose genetic mutations in the MSMO1 gene that cause microcephaly, aiding in clinical diagnosis, family carrier screening, and guiding treatment and management strategies for affected individuals.

How to Prepare

  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Store samples at ambient temperature if using FTA cards
  • Transport samples to the laboratory within the specified stability period

Doctor's Notes

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

"Early genetic diagnosis of MSMO1-related microcephaly allows for timely intervention and genetic counseling for families, improving management outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card collection

Sample Stability

Blood samples: Stable for 48 hours at room temperature
FTA card samples: Stable for several weeks at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the MSMO1 Gene Microcephaly NGS Genetic Test indicate the presence or absence of pathogenic mutations in the MSMO1 gene. A positive result confirms a genetic basis for microcephaly, while a negative result may require further investigation.
Positive for pathogenic variant: Confirms MSMO1-related microcephaly; genetic counseling recommended
Negative for pathogenic variant: Reduces likelihood of MSMO1 gene involvement; consider other genetic tests
Variant of uncertain significance (VUS): Requires further family studies and clinical correlation
Carrier status: Indicates one mutated copy; may inform family planning decisions
⚠️ When to Consult a Doctor:

Consult a healthcare professional if test results are positive, if there are concerns about family history, or if symptoms persist despite negative results. Genetic counseling is advised for all cases.

Limitations

  • ⚠May not detect all possible mutations in the MSMO1 gene
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic or non-genetic causes of microcephaly

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions may affect DNA analysis

Frequently Asked Questions

What is the MSMO1 Gene Microcephaly NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the MSMO1 gene, which can cause microcephaly, a condition with a smaller than average head size.
Who should consider getting this test?
Individuals with a family history of microcephaly, children showing symptoms like small head size or developmental delays, or those with suspected cholesterol metabolism disorders.
How is the test performed?
A blood, saliva, or FTA card sample is collected and analyzed using NGS technology to identify genetic variants in the MSMO1 gene.
What samples are required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used for sample collection.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample receipt at the laboratory.
What is the cost of the MSMO1 Gene Microcephaly NGS Genetic Test?
The test costs INR 20,000, which includes home sample collection across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What do the test results mean?
A positive result indicates a pathogenic mutation in the MSMO1 gene, confirming genetic microcephaly. A negative result suggests no such mutation, but further testing may be needed.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic counseling is provided to address psychological impacts.
Can this test be used for carrier screening?
Yes, it can identify carriers of MSMO1 gene mutations, which is useful for family planning and genetic counseling.
What is the accuracy of the NGS genetic test?
NGS technology offers high accuracy for detecting genetic variants, but results should be interpreted by a genetic specialist in clinical context.
How can I prepare for the test?
No special preparation is needed. Attend a genetic counseling session to discuss family history and test implications before sample collection.
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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