MSX1 Gene Orofacial cleft type 5 NGS Genetic Test
Short Name: MSX1 Cleft NGS
Also known as: MSX1 Gene Mutation Test, Orofacial Cleft Type 5 NGS Panel, MSX1 Sequencing
MSX1 Gene Orofacial cleft type 5 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 from 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 NGS genetic test is to identify mutations in the MSX1 gene that cause Orofacial Cleft Type 5. It aids in confirming a clinical diagnosis, assessing recurrence risk in families, and guiding management decisions. The test is also valuable for prenatal diagnosis in at-risk pregnancies and for genetic counseling.
- Test Code
- 5881
- CPT Code
- 81408
- ICD Code
- Q37.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. Inform your doctor about any medications or supplements. A genetic counseling session is recommended before testing.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify mutations in the MSX1 gene that cause Orofacial Cleft Type 5. It aids in confirming a clinical diagnosis, assessing recurrence risk in families, and guiding management decisions. The test is also valuable for prenatal diagnosis in at-risk pregnancies and for genetic counseling.
How to Prepare
- Use EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood on the designated circle
- Label the sample with patient name and ID
- Store at room temperature if shipping within 24 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of MSX1-related orofacial clefts enables timely surgical planning and family counseling. NGS provides comprehensive mutation detection."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged delay without proper storage
Understanding Your Results
Positive
Pathogenic variant detected; confirms diagnosis of Orofacial Cleft Type 5. Genetic counseling recommended.
Negative
No pathogenic variant found; does not rule out other genetic causes. Further testing may be considered.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Additional family studies may help.
Consult a clinical geneticist or pediatrician if you or your child has cleft lip/palate, or if there is a family history of orofacial clefts. Early referral enables timely intervention.
Limitations
- ⚠This test detects mutations in the MSX1 gene only; other genes may also cause orofacial clefts.
- ⚠Variant of uncertain significance (VUS) may be reported; further analysis may be needed.
- ⚠NGS may not detect large deletions/duplications; additional testing may be required.
- ⚠Test does not assess non-genetic causes of clefts.
Risks & Considerations
- ●Minimal risk of bruising at blood draw site
- ●Rare possibility of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
- ●Incorrect sample labeling
Compare With Similar Tests
| Test | MSX1 Gene Orofacial cleft type 5 NGS Genetic Test | IRF6 Gene Cleft Lip/Palate NGS | TBX22 Gene Cleft Palate NGS | Comprehensive Cleft Panel (20 genes) |
|---|---|---|---|---|
| Comparison | MSX1 Gene Orofacial cleft type 5 NGS Genetic Test | Targets IRF6 gene, associated with Van der Woude syndrome. | Targets TBX22 gene, linked to X-linked cleft palate. | Covers multiple genes including MSX1, IRF6, TBX22. |
Frequently Asked Questions
What is the cost of the MSX1 Gene Orofacial Cleft Type 5 NGS Genetic Test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Does the test include genetic counseling?
Will I receive raw data files?
Is home sample collection available?
What conditions are associated with MSX1 mutations?
Can this test be done for prenatal diagnosis?
What is the accuracy of the NGS test?
Are there any risks associated with the test?
How do I book the test?
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₹20,000Reference 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.
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✓ 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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