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MSX2 Gene Craniosynostosis type 2 NGS Genetic Test

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MSX2 Gene Craniosynostosis type 2 NGS Genetic Test

Short Name: MSX2 Craniosynostosis Type 2 NGS Test

Also known as: MSX2 Craniosynostosis, MSX2-Related Craniosynostosis, Craniosynostosis Type 2 Genetic Test

MSX2 Gene Craniosynostosis type 2 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 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestPediatric🏠 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 this test is to detect mutations in the MSX2 gene to confirm a diagnosis of craniosynostosis type 2, guide treatment decisions, and provide information for genetic counseling and family planning.

Test Code
2716
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
NGS Technology
Step 1

Sample Collection

No special preparation is required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or Blood Drop

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a blood drop collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Sample collection via blood draw or blood drop on FTA card.
3
After the Test:Results are analyzed in the lab and reported within 3 to 4 weeks. Genetic counseling post-test is advised.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the MSX2 gene to confirm a diagnosis of craniosynostosis type 2, guide treatment decisions, and provide information for genetic counseling and family planning.

How to Prepare

  • Ensure proper patient identification
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is crucial for early diagnosis and management of craniosynostosis, aiding in timely intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Blood Drop

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the MSX2 gene associated with craniosynostosis type 2.
Positive Result: Pathogenic mutation detected, confirming diagnosis. Consult genetic counselor for management.
Negative Result: No pathogenic variant detected. Clinical correlation recommended if symptoms persist.
Variant of Uncertain Significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as abnormal head shape, increased intracranial pressure, or developmental delays are observed, or if there is a family history of craniosynostosis.

Limitations

  • ⚠May not detect all possible mutations in the MSX2 gene
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Does not rule out other genetic causes of craniosynostosis

Risks & Considerations

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

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample collection or storage
  • ●Recent blood transfusion may affect results

Compare With Similar Tests

TestMSX2 Gene Craniosynostosis type 2 NGS Genetic TestCT Scan of SkullMRI ScanClinical Exome Sequencing
ComparisonMSX2 Gene Craniosynostosis type 2 NGS Genetic Test

Frequently Asked Questions

What is MSX2 Gene Craniosynostosis Type 2?
It is a genetic disorder caused by mutations in the MSX2 gene, leading to premature fusion of skull bones and abnormal head shape.
What are the symptoms of this condition?
Symptoms include abnormal head shape, increased intracranial pressure, delayed motor skills, speech delays, and learning difficulties.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample or extracted DNA.
What is the cost of the test?
The cost is INR 20000 at DNA Labs India, with free home sample collection.
Is fasting required before the test?
No, fasting is not required.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What sample type is needed?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is home sample collection available?
Yes, free home collection is available across India.
What does a positive result mean?
A positive result indicates a mutation in the MSX2 gene, confirming craniosynostosis type 2. Genetic counseling is recommended.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings with appropriate genetic counseling, but consult a specialist.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, such as bruising.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be interpreted by a genetic specialist.
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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