GDF5 Gene Brachydactyly type A1C NGS Genetic Test
Short Name: GDF5 Brachydactyly A1C NGS Test
Also known as: Brachydactyly A1C, GDF5-related brachydactyly
GDF5 Gene Brachydactyly type A1C 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. 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 purpose of the GDF5 Gene Brachydactyly type A1C NGS Genetic Test is to identify mutations in the GDF5 gene associated with Brachydactyly type A1C. This test aids in confirming diagnosis, guiding treatment decisions, facilitating genetic counseling, and assessing recurrence risks in families.
- Test Code
- 5680
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or DNA extraction
Laboratory Analysis
Blood sample will be drawn via venipuncture, or DNA extracted from provided sample. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as instructed and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GDF5 Gene Brachydactyly type A1C NGS Genetic Test is to identify mutations in the GDF5 gene associated with Brachydactyly type A1C. This test aids in confirming diagnosis, guiding treatment decisions, facilitating genetic counseling, and assessing recurrence risks in families.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label samples correctly with patient details
- Follow transport guidelines for sample stability
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Brachydactyly type A1C can aid in accurate diagnosis, management of symptoms, and informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Incorrect labeling
- Insufficient sample volume
- Improper storage conditions
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of Brachydactyly type A1C due to GDF5 gene mutation. Genetic counseling recommended.
Negative for pathogenic mutation
No mutation detected in the GDF5 gene. Clinical correlation and additional testing may be needed.
Variant of uncertain significance
A genetic variant was found but its clinical significance is unknown. Further family studies and follow-up advised.
Consult a doctor if you or your child exhibits symptoms such as shortened fingers or toes, joint issues, or if there is a family history of brachydactyly. After receiving test results, seek genetic counseling for interpretation and management guidance.
Limitations
- ⚠Test may not detect all possible mutations in the GDF5 gene
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not assess for other genetic conditions
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample degradation
- ●Contamination during collection or processing
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | GDF5 Gene Brachydactyly type A1C NGS Genetic Test | Whole Exome Sequencing | Skeletal Dysplasia Panel | Karyotyping | FISH Analysis |
|---|---|---|---|---|---|
| Comparison | GDF5 Gene Brachydactyly type A1C NGS Genetic Test |
Frequently Asked Questions
What is Brachydactyly type A1C?
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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.
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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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