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GDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic Test

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GDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic Test

Short Name: GDF6 KFS1 NGS

Also known as: KFS1 Genetic Test, GDF6 Gene Sequencing, Klippel-Feil Syndrome NGS Panel

GDF6 Gene Klippel-Feil syndrome type 1, 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 available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

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 GDF6 gene that cause Klippel-Feil syndrome type 1. It is indicated for individuals with clinical features suggestive of KFS, for confirmation of diagnosis, for carrier testing in at-risk family members, and for reproductive planning. The test also helps differentiate KFS type 1 from other genetic skeletal dysplasias.

Test Code
5813
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 available within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications of results.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample is drawn by a trained phlebotomist. For FTA card, a drop of blood is placed on the card and allowed to dry.

Step 3

Report Delivery

No restrictions. The sample is transported to the laboratory at ambient temperature.

Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is provided to discuss the purpose, risks, benefits, and possible outcomes of the test. A pedigree chart is drawn to assess inheritance patterns.
2
During the Test:The NGS test involves DNA extraction, library preparation, sequencing, and bioinformatics analysis. The process is fully automated and quality-controlled.
3
After the Test:Post-test genetic counseling is recommended to explain results and discuss management options. A detailed clinical report is provided, along with raw data files.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify mutations in the GDF6 gene that cause Klippel-Feil syndrome type 1. It is indicated for individuals with clinical features suggestive of KFS, for confirmation of diagnosis, for carrier testing in at-risk family members, and for reproductive planning. The test also helps differentiate KFS type 1 from other genetic skeletal dysplasias.

How to Prepare

  • For blood: Use EDTA vacutainer, mix gently to prevent clotting.
  • For FTA card: Apply one drop of blood onto the card, air dry for 30 minutes.
  • Label the sample with patient ID and date of collection.
  • Transport at room temperature within 24 hours.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for Klippel-Feil syndrome type 1 is crucial for confirming diagnosis and guiding family planning. NGS provides comprehensive analysis of the GDF6 gene."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA24 hours
Blood in EDTA72 hours
FTA card6 months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The interpretation of GDF6 gene NGS results should be performed by a qualified geneticist. A positive result for a pathogenic variant confirms the diagnosis of KFS type 1 and indicates an autosomal dominant inheritance pattern. A negative result does not completely rule out KFS, as mutations in other genes or non-genetic causes may be responsible.
📊

Pathogenic variant detected

Confirms diagnosis of KFS type 1. Autosomal dominant inheritance. Genetic counseling recommended.

📊

Likely pathogenic variant detected

Highly suggestive of disease; further family studies may be needed.

📊

Variant of uncertain significance (VUS)

Cannot be definitively classified; additional testing of family members may help.

📊

No pathogenic variant detected

Does not confirm KFS type 1; consider other genetic causes or clinical evaluation.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or orthopedic specialist if you or your child have symptoms such as a short neck, limited neck movement, or abnormal spine curvature. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠This test only analyzes the GDF6 gene; mutations in other genes (e.g., GDF3, MEOX1) may cause KFS but are not covered.
  • ⚠Variant of uncertain significance (VUS) may be reported; additional family studies may be needed.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
  • ⚠Test does not assess non-genetic causes of cervical fusion.

Risks & Considerations

  • ●No significant physical risks from blood draw, but mild bruising or discomfort may occur.
  • ●Psychological impact of genetic results.
  • ●Potential for incidental findings unrelated to the primary indication.

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Incomplete gene coverage due to technical limitations

Compare With Similar Tests

TestGDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic TestKFS Comprehensive Panel (Multiple Genes)Sanger Sequencing for GDF6
ComparisonGDF6 Gene Klippel-Feil syndrome type 1, autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is Klippel-Feil Syndrome Type 1?
Klippel-Feil Syndrome Type 1 is a rare genetic disorder characterized by the fusion of cervical vertebrae, leading to a short neck, low hairline, and restricted neck movement. It is caused by mutations in the GDF6 gene and inherited in an autosomal dominant pattern.
How is GDF6 gene Klippel-Feil syndrome type 1 diagnosed?
Diagnosis involves clinical examination, imaging studies (X-ray, CT, MRI), and genetic testing. NGS genetic testing of the GDF6 gene confirms the diagnosis by identifying pathogenic mutations.
What is the cost of the GDF6 NGS genetic test in India?
The cost is INR 20,000 at DNA Labs India, which includes home sample collection, genetic counseling, and a comprehensive clinical report.
What sample is required for the test?
The sample can be blood (2-3 ml in EDTA), extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the results?
Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Will I receive raw data files?
Yes, DNA Labs India provides raw data files (FASTQ, VCF) along with the clinical report for transparency.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the GDF6 gene, confirming the diagnosis of KFS type 1. Genetic counseling is recommended.
Can this test be used for prenatal diagnosis?
Yes, but it requires prior genetic counseling and is performed on fetal samples (e.g., amniotic fluid or CVS) under specialist guidance.
Are there any risks associated with the test?
The test is safe. The only risk is minor discomfort during blood collection. Genetic results may have psychological implications, so counseling is advised.
Is the test covered by insurance?
Insurance coverage varies. It is advisable to check with your insurance provider. DNA Labs India offers affordable self-pay options.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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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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