MSX2 Gene Parietal foramina type 1 NGS Genetic Test
Short Name: MSX2 Gene NGS Test
Also known as: MSX2 Gene Mutation Test, Parietal Foramina Genetic Test, MSX2 Sequencing
MSX2 Gene Parietal foramina type 1 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 Reports are typically delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of parietal foramina type 1 by identifying pathogenic mutations in the MSX2 gene. It also aids in genetic counseling, risk assessment for family members, and differentiation from other craniosynostosis syndromes.
- Test Code
- 5895
- CPT Code
- 81407
- ICD Code
- Q75.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a simple fingerstick is performed.
Report Delivery
No restrictions. Patient can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of parietal foramina type 1 by identifying pathogenic mutations in the MSX2 gene. It also aids in genetic counseling, risk assessment for family members, and differentiation from other craniosynostosis syndromes.
How to Prepare
- Use EDTA vacutainer for blood sample
- For FTA card, apply one drop of blood on the designated circle
- Label the sample with patient ID and date
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Parietal foramina type 1 is usually benign, but genetic confirmation helps in family planning and ruling out associated syndromes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of parietal foramina type 1. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
High likelihood of disease. Further family studies may be needed.
Variant of uncertain significance (VUS)
Clinical significance unclear. Additional testing of family members may help.
No pathogenic variant detected
No mutation found in MSX2 gene. Other causes should be considered.
Consult a clinical geneticist or pediatrician if you have a family history of parietal foramina, or if imaging reveals skull defects. Also seek consultation if you are planning a pregnancy and are a known carrier.
Limitations
- ⚠This test only analyzes the MSX2 gene; other genes may be involved in similar phenotypes.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Presence of hematological malignancies
Compare With Similar Tests
| Test | MSX2 Gene Parietal foramina type 1 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | MSX2 Gene Parietal foramina type 1 NGS Genetic Test |
Frequently Asked Questions
What is the MSX2 gene parietal foramina type 1 NGS genetic test?
What are the symptoms of parietal foramina type 1?
How is the test performed?
Is fasting required before the test?
What is the cost of the test in India?
How long does it take to get the results?
Will I receive raw data files?
Is genetic counseling included?
Can this test be done during pregnancy?
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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.
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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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