CBFB Gene Skeletal abnormalities, CBFB related NGS Genetic Test
Short Name: CBFB NGS Genetic Test
Also known as: CBFB gene sequencing, Skeletal dysplasia NGS panel, CBFB-related disorder genetic test
CBFB Gene Skeletal abnormalities, CBFB 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 Results are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. 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 pathogenic mutations in the CBFB gene and other genes associated with skeletal abnormalities. It is indicated for individuals with clinical features suggestive of CBFB-related skeletal dysplasia, such as short stature, bone deformities, or family history of the condition. The test helps confirm diagnosis, guide management, and provide recurrence risk information for family planning.
- Test Code
- 5930
- CPT Code
- 81408
- ICD Code
- Q78.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically delivered within 3 to 4 weeks after the sample reaches 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 discuss the implications and obtain informed consent.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. If using FTA card, a few drops of blood will be placed on the card.
Report Delivery
No specific precautions. You can resume normal activities immediately.
Timeline: Results are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the CBFB gene and other genes associated with skeletal abnormalities. It is indicated for individuals with clinical features suggestive of CBFB-related skeletal dysplasia, such as short stature, bone deformities, or family history of the condition. The test helps confirm diagnosis, guide management, and provide recurrence risk information for family planning.
How to Prepare
- For blood sample: Use EDTA tube, fill to the indicated mark.
- For FTA card: Apply blood drops to the designated circles, air dry for 30 minutes.
- Label the sample with patient name, date, and time of collection.
- Transport at ambient temperature (15-25°C) to the laboratory within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for CBFB-related skeletal abnormalities is crucial for accurate diagnosis and family planning. Early detection can guide management and surveillance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after 72 hours without refrigeration
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant was identified in the CBFB gene or other analyzed genes, confirming the diagnosis.
Action: Genetic counseling is recommended to discuss management and family implications.
Negative
No pathogenic variants were detected. This does not exclude a genetic cause, as other genes may be involved.
Action: Consider further testing or clinical correlation.
Variant of Uncertain Significance (VUS)
A variant was found, but its clinical significance is unknown.
Action: Additional testing of family members or functional studies may be needed.
Consult a geneticist or orthopedic specialist if you or your child have symptoms such as short stature, bone deformities, or family history of skeletal dysplasia. Early consultation can lead to timely diagnosis and management.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Not all genes associated with skeletal abnormalities are included
- ⚠Variant of uncertain significance (VUS) may be reported; further testing may be needed
- ⚠Test does not assess non-genetic causes of skeletal abnormalities
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
Compare With Similar Tests
| Test | CBFB Gene Skeletal abnormalities, CBFB related NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | CBFB Gene Skeletal abnormalities, CBFB related NGS Genetic Test |
Frequently Asked Questions
What is the CBFB gene and how does it affect skeletal development?
What are the common symptoms of CBFB-related skeletal abnormalities?
How is the CBFB NGS genetic test performed?
Is fasting required before the test?
What is the cost of the CBFB NGS genetic test?
How long does it take to get the results?
Can this test be done at home?
What does a positive result mean?
What if the result is negative?
Is genetic counseling necessary before the test?
What sample types are accepted?
Are there any risks associated with the test?
Related Tests
WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test
₹20,000FLNB Gene Atelosteogenesis type 3 NGS Genetic Test
₹20,000FLNB Gene Atelosteogenesis type 1 NGS Genetic Test
₹20,000EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test
₹20,000COL11A1 Gene Marshall syndrome NGS Genetic Test
₹20,000ACTN3 (Sports Gene) Genotyping Test
₹7,000Reference 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.
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.