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FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic Test

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FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic Test

Short Name: FKBP14 Gene EDS NGS Test

Also known as: FKBP14-related Ehlers-Danlos Syndrome, Kyphoscoliotic EDS

FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 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.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic variants in the FKBP14 gene that cause Ehlers-Danlos Syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, aiding in accurate diagnosis and genetic counseling.

Test Code
4920
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)
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or cheek swab.

Step 3

Report Delivery

Sample sent to laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and pedigree analysis.
2
During the Test:Sample collection and processing.
3
After the Test:Report generation and delivery.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the FKBP14 gene that cause Ehlers-Danlos Syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, aiding in accurate diagnosis and genetic counseling.

How to Prepare

  • Provide clinical history
  • Attend genetic counseling session
  • Ensure proper sample labeling

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for FKBP14 mutations is crucial for accurate diagnosis and management of Ehlers-Danlos Syndrome, especially in patients with progressive kyphoscoliosis and hearing loss."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube for blood
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the FKBP14 gene. Positive results confirm FKBP14-related EDS, while negative results may require further testing.
Pathogenic variants confirm diagnosis
Variants of uncertain significance need follow-up
Genetic counseling recommended for all results
⚠️ When to Consult a Doctor:

If symptoms such as progressive kyphoscoliosis, myopathy, or hearing loss are present, or if there is a family history of EDS.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires interpretation by a geneticist
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is FKBP14 Gene Ehlers-Danlos Syndrome?
It is a rare genetic disorder caused by mutations in the FKBP14 gene, leading to connective tissue issues with symptoms like progressive kyphoscoliosis, myopathy, and hearing loss.
What are the main symptoms of this condition?
Key symptoms include progressive kyphoscoliosis, muscle weakness (myopathy), hearing loss, joint hypermobility, fragile skin, poor wound healing, and thin skin.
How is the NGS Genetic Test performed?
The test involves collecting a blood sample or cheek swab, which is analyzed using next-generation sequencing to detect mutations in the FKBP14 gene.
What is the cost of the FKBP14 Gene EDS NGS Test?
The test costs INR 20000, with home sample collection available across India at no additional charge.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What does a positive test result indicate?
A positive result confirms the presence of pathogenic mutations in the FKBP14 gene, diagnosing FKBP14-related Ehlers-Danlos Syndrome.
Is genetic counseling included in the test package?
Yes, a genetic counseling session is included to draw a pedigree chart and discuss implications before and after testing.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, but parental consent and genetic counseling are recommended for minors.
Is the test covered by health insurance schemes like PMJAY or CGHS?
Coverage varies; it is advisable to check with your insurance provider as genetic testing may not be covered under all schemes.
What types of samples are accepted for the test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
How accurate is the NGS Genetic Test for detecting FKBP14 mutations?
The test is highly accurate using advanced NGS technology, but results should be interpreted by a geneticist in correlation with clinical findings.
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

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.

LIMS Integration

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.

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