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CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic Test

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CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic Test

Short Name: CHST14 Gene EDS MC1 NGS Test

Also known as: MC1 EDS, CHST14-related Ehlers-Danlos syndrome

CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 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.

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

To diagnose Ehlers-Danlos syndrome, musculocontractural type 1 by detecting pathogenic mutations in the CHST14 gene using advanced NGS technology.

Test Code
4922
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

Genetic counseling session recommended to discuss test implications and draw a family pedigree chart.

Method: Venipuncture or Saliva Collection

Step 2

Laboratory Analysis

Sample collected via venipuncture for blood or non-invasive saliva collection.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test purpose, implications, and family history review.
2
During the Test:Non-invasive sample collection (blood or saliva) performed by a trained professional.
3
After the Test:Wait for report delivery in 3-4 weeks; follow-up consultation for result interpretation.

About This Test

Who Should Get This Test

To diagnose Ehlers-Danlos syndrome, musculocontractural type 1 by detecting pathogenic mutations in the CHST14 gene using advanced NGS technology.

How to Prepare

  • Avoid eating or drinking 30 minutes before saliva collection if specified
  • Follow standard aseptic blood collection procedures
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is essential for confirming diagnosis of MC1 EDS, guiding management, and providing genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL blood or equivalent
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Saliva Collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA Card samples stable for extended periods at ambient temperature
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of mutations in the CHST14 gene associated with Ehlers-Danlos syndrome, musculocontractural type 1.
📊

Positive

Pathogenic mutation detected in CHST14 gene, confirming diagnosis of MC1 EDS.

📊

Negative

No pathogenic mutation detected; clinical correlation and further testing may be needed.

📊

Variant of uncertain significance

Genetic variant identified but clinical significance unclear; genetic counseling advised.

⚠️ When to Consult a Doctor:

If symptoms such as joint contractures, muscle weakness, or distinctive facial features are present, consult a geneticist or dermatologist for evaluation and possible testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●Implications for family members

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage

Compare With Similar Tests

TestCHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic TestCOL5A1 Gene EDS TestCOL3A1 Gene Vascular EDS TestTNXB Gene EDS Test
ComparisonCHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic Test

Frequently Asked Questions

What is the CHST14 Gene EDS MC1 NGS Genetic Test?
It is a genetic test that analyzes the CHST14 gene for mutations causing Ehlers-Danlos syndrome, musculocontractural type 1, using next-generation sequencing technology.
What is the cost of this test?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What are the symptoms of MC1 EDS?
Symptoms include joint contractures, muscle weakness, distinctive facial appearance, short stature, small hands and feet, clubfoot, thin skin with visible veins, easy bruising, and delayed motor development.
How is the test performed?
The test involves collecting a blood or saliva sample, which is then analyzed using NGS technology to detect mutations in the CHST14 gene.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA Card can be used.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What is the accuracy of the test?
The test uses advanced NGS technology, providing highly accurate results for detecting CHST14 gene mutations.
Who should get this test?
Individuals with symptoms of MC1 EDS or a family history of the condition should consider this test, after genetic counseling.
What is the significance of CHST14 gene mutations?
Mutations in the CHST14 gene impair dermatan sulfate synthesis, leading to connective tissue defects characteristic of MC1 EDS.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications; genetic counseling is recommended.
How can I book this test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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