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CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test

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CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test

Short Name: CHST3 SED NGS Test

Also known as: CHST3-related skeletal dysplasia, Spondyloepiphyseal dysplasia with congenital joint dislocations type 1

CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations 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

To detect pathogenic variants in the CHST3 gene for the diagnosis of spondyloepiphyseal dysplasia with congenital joint dislocations, aiding in clinical management and genetic counseling.

Test Code
5137
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

No specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or finger-prick.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand the test implications.
2
During the Test:Sample collection and processing in the laboratory.
3
After the Test:Report delivery and follow-up counseling if needed.

About This Test

Who Should Get This Test

To detect pathogenic variants in the CHST3 gene for the diagnosis of spondyloepiphyseal dysplasia with congenital joint dislocations, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Label samples correctly

Doctor's Notes

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

"Early genetic testing for CHST3 mutations can guide management and family planning for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the CHST3 gene.
📊

Pathogenic variant detected

Confirms diagnosis of CHST3-related spondyloepiphyseal dysplasia. Genetic counseling recommended.

📊

No pathogenic variant detected

Does not rule out the disorder; clinical evaluation and other tests may be needed.

⚠️ When to Consult a Doctor:

If symptoms of skeletal dysplasia are present, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection at puncture site

Interfering Factors

  • ●Hemolyzed or degraded DNA samples
  • ●Contamination during sample collection

Compare With Similar Tests

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ComparisonCHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test

Frequently Asked Questions

What is the CHST3 Gene SED with Congenital Joint Dislocations NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the CHST3 gene, which causes spondyloepiphyseal dysplasia with congenital joint dislocations, a rare genetic disorder affecting bones and joints.
Who should get this test?
Individuals with symptoms like short stature, joint dislocations, spinal curvature, or a family history of the disorder should consider this test for accurate diagnosis.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to identify mutations in the CHST3 gene.
What is the cost of the test?
The test costs INR 20000 in India, with home sample collection available at no extra charge.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic variants are detected in the CHST3 gene, confirming the diagnosis, or if no variants are found, requiring further clinical evaluation.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising or infection at the puncture site.
Can this test be used for prenatal diagnosis?
Yes, with appropriate genetic counseling, this test can be used for prenatal diagnosis in families with known mutations.
What is the accuracy of the test?
NGS technology provides high accuracy for detecting mutations, but results should be correlated with clinical findings.
How should I prepare for the test?
No special preparation is needed. Provide your clinical history and family pedigree during genetic counseling.
What if the test results are positive?
A positive result confirms the diagnosis, and genetic counseling will guide management, treatment options, and family planning.
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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