GDF3 Gene Klippel-Feil syndrome type 3, autosomal dominant NGS Genetic Test
Short Name: GDF3 KFS3 NGS
Also known as: KFS3 Genetic Test, GDF3 Gene Sequencing, Autosomal Dominant KFS Type 3 NGS
GDF3 Gene Klippel-Feil syndrome type 3, autosomal dominant 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 NGS genetic test is to detect mutations in the GDF3 gene associated with Klippel-Feil syndrome type 3. It aids in confirming a clinical diagnosis, identifying carriers, and providing information for reproductive planning and family counseling.
- Test Code
- 5817
- CPT Code
- 81407
- ICD Code
- Q76.1
- 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 is required. However, a genetic counseling session is recommended to discuss the implications of testing and to draw a pedigree chart.
Method: Blood draw or FTA card spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card and allowed to dry.
Report Delivery
No specific precautions. The sample will be transported to the laboratory for analysis.
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 NGS genetic test is to detect mutations in the GDF3 gene associated with Klippel-Feil syndrome type 3. It aids in confirming a clinical diagnosis, identifying carriers, and providing information for reproductive planning and family counseling.
How to Prepare
- Ensure the patient's identity is verified.
- Use sterile EDTA tube for blood collection.
- If using FTA card, allow blood spots to dry completely before packaging.
- Label the sample with patient name, date, and unique ID.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Klippel-Feil syndrome type 3 is crucial for accurate diagnosis and family counseling. NGS provides comprehensive analysis of the GDF3 gene, aiding in early intervention and management."
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
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Klippel-Feil syndrome type 3. Genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of disease; further testing may be needed for confirmation.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional family studies or functional assays may be required.
No pathogenic variant detected
Does not rule out KFS; other genetic or non-genetic causes may be considered.
If you or a family member have symptoms suggestive of Klippel-Feil syndrome, or if you have a known family history, consult a clinical geneticist or orthopedic specialist for evaluation and testing.
Limitations
- ⚠This test only analyzes the GDF3 gene; mutations in other genes associated with KFS may not be detected.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants.
- ⚠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 uncertain results (VUS)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | GDF3 Gene Klippel-Feil syndrome type 3, autosomal dominant NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted GDF3 Sanger Sequencing | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | GDF3 Gene Klippel-Feil syndrome type 3, autosomal dominant NGS Genetic Test |
Frequently Asked Questions
What is Klippel-Feil syndrome type 3?
What are the common symptoms of GDF3-related KFS?
How is GDF3 KFS type 3 diagnosed?
What is the cost of the GDF3 NGS genetic test in India?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Will I receive raw data files?
Can this test be done during pregnancy?
What does a negative result mean?
Is genetic counseling included?
How can I book this test?
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₹20,000Reference Laboratory Services
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