BMP4 Gene Orofacial cleft type 11 NGS Genetic Test
Short Name: BMP4 Orofacial Cleft NGS
Also known as: BMP4 Gene Sequencing, Orofacial Cleft Type 11 Genetic Test, BMP4 Mutation Analysis
BMP4 Gene Orofacial cleft type 11 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 Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the BMP4 gene orofacial cleft type 11 NGS genetic test is to confirm a diagnosis of orofacial cleft type 11 by identifying pathogenic variants in the BMP4 gene. This test is indicated for individuals presenting with cleft lip and/or palate, especially when a genetic etiology is suspected. It helps in: 1) Differentiating between syndromic and non-syndromic forms of orofacial clefts, 2) Providing accurate genetic counseling for recurrence risk assessment, 3) Guiding surgical and multidisciplinary management, 4) Identifying carriers in family members, and 5) Enabling prenatal diagnosis in future pregnancies if desired. The test is also useful for research purposes and for understanding the molecular basis of the condition.
- Test Code
- 5882
- CPT Code
- 81408
- ICD Code
- Q35.9, Q36.9, Q37.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is mandatory before the test to draw a pedigree chart and discuss the implications. Please inform the lab about any medications or supplements you are taking.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. If using FTA card, a simple fingerstick is sufficient. The procedure is quick and minimally invasive.
Report Delivery
You can resume normal activities immediately. The sample will be sent to our laboratory for analysis. Results are typically available in 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the BMP4 gene orofacial cleft type 11 NGS genetic test is to confirm a diagnosis of orofacial cleft type 11 by identifying pathogenic variants in the BMP4 gene. This test is indicated for individuals presenting with cleft lip and/or palate, especially when a genetic etiology is suspected. It helps in: 1) Differentiating between syndromic and non-syndromic forms of orofacial clefts, 2) Providing accurate genetic counseling for recurrence risk assessment, 3) Guiding surgical and multidisciplinary management, 4) Identifying carriers in family members, and 5) Enabling prenatal diagnosis in future pregnancies if desired. The test is also useful for research purposes and for understanding the molecular basis of the condition.
How to Prepare
- Ensure the sample is labeled correctly with patient details.
- For blood samples, use EDTA vacutainer and mix gently.
- For FTA card, apply one drop of blood and allow to dry completely.
- Transport samples at ambient temperature to the lab.
- Avoid hemolysis or clotting of blood samples.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for orofacial cleft type 11 is crucial for accurate diagnosis and family planning. The BMP4 gene plays a key role in craniofacial development, and NGS provides comprehensive analysis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample exposed to extreme temperatures
- FTA card with insufficient blood or contamination
Understanding Your Results
Positive
Pathogenic variant detected in BMP4 gene. Confirms diagnosis of orofacial cleft type 11. Genetic counseling recommended for family planning.
Negative
No pathogenic variant found in BMP4 gene. Other genetic or environmental factors may be responsible. Consider testing other cleft-related genes.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Additional testing of family members may help clarify.
Consult a geneticist or pediatrician if you or your child has a cleft lip or palate, especially if there is a family history of orofacial clefts. Early genetic testing can guide treatment and provide recurrence risk information.
Limitations
- ⚠This test detects mutations only in the BMP4 gene; other genes may also cause orofacial clefts.
- ⚠Variants of uncertain significance may be reported; further analysis may be needed.
- ⚠NGS may not detect large deletions/duplications; additional testing may be required.
- ⚠Genetic testing cannot predict the severity of the cleft or associated anomalies.
- ⚠Results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance
- ●Insurance or employment discrimination concerns (though rare)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
- ●Maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | BMP4 Gene Orofacial cleft type 11 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Targeted Cleft Panel |
|---|---|---|---|---|
| Comparison | BMP4 Gene Orofacial cleft type 11 NGS Genetic Test | CMA detects large chromosomal deletions/duplications, while NGS focuses on single gene mutations. CMA is useful when a syndromic cause is suspected. | WES analyzes all coding regions of genes, providing a broader analysis. It is more expensive and may identify variants in genes other than BMP4. | A panel of multiple genes associated with orofacial clefts, including BMP4. This is more comprehensive than single-gene testing. |
Frequently Asked Questions
What is the cost of the BMP4 gene orofacial cleft type 11 NGS genetic test?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get the results?
Is home sample collection available?
What does a positive result mean?
Can this test detect all genetic causes of orofacial clefts?
Is genetic counseling included in the test price?
What is the turnaround time for reports?
Is this test suitable for prenatal diagnosis?
Are there any risks associated with the test?
Can I book the test online?
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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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