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COL10A1 Gene Metaphyseal chondrodysplasia, Schmid type NGS Genetic Test

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COL10A1 Gene Metaphyseal chondrodysplasia, Schmid type NGS Genetic Test

Short Name: MCDS NGS Test

Also known as: Metaphyseal chondrodysplasia, Schmid type, MCDS

COL10A1 Gene Metaphyseal chondrodysplasia, Schmid type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the COL10A1 Gene MCDS NGS Genetic Test is to confirm a diagnosis of Metaphyseal chondrodysplasia, Schmid type by identifying mutations in the COL10A1 gene. It is also used for carrier testing to determine if individuals carry the mutation without symptoms, and for prenatal diagnosis to assess fetal risk in families with a history of MCDS.

Test Code
2447
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
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture, or alternatively, extracted DNA or one drop of blood on an FTA card can be used.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before testing.
2
During the Test:Blood sample collection via venipuncture; minimal discomfort expected.
3
After the Test:Results available in 3-4 weeks; follow-up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of the COL10A1 Gene MCDS NGS Genetic Test is to confirm a diagnosis of Metaphyseal chondrodysplasia, Schmid type by identifying mutations in the COL10A1 gene. It is also used for carrier testing to determine if individuals carry the mutation without symptoms, and for prenatal diagnosis to assess fetal risk in families with a history of MCDS.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples accurately with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"This test is essential for confirming MCDS diagnosis, enabling early management and informed family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples stable at room temperature for 48 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the COL10A1 gene. Positive results confirm MCDS, while negative results may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of MCDS; genetic counseling recommended for family planning

📊

No pathogenic variant detected

MCDS unlikely based on genetic testing; consider other diagnoses or repeat testing if symptoms persist

📊

Variant of uncertain significance

Further testing and clinical correlation needed; genetic counseling advised

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as short stature, bone deformities, or joint pain are present, or if there is a family history of MCDS. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Cannot predict disease severity or progression

Risks & Considerations

  • ●Minor bruising or pain at the puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample collection or storage

Frequently Asked Questions

What is the COL10A1 Gene MCDS NGS Genetic Test?
It is a diagnostic test using next-generation sequencing to identify mutations in the COL10A1 gene, confirming Metaphyseal chondrodysplasia, Schmid type (MCDS).
How much does the test cost?
The test costs INR 20000, with free home sample collection available across India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of MCDS?
Common symptoms include short stature, bowed legs, curved spine, joint pain, enlarged wrists/ankles, and dental problems.
How is MCDS diagnosed?
Diagnosis involves clinical evaluation, X-rays, and genetic testing to confirm COL10A1 mutations.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal diagnosis in families with a history of MCDS.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
What is the accuracy of the test?
The test uses advanced NGS technology for high accuracy in detecting COL10A1 mutations, but results should be interpreted clinically.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but genetic results may have emotional implications.
How do I book the test?
You can book online through DNA Labs India's website or contact their customer service 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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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.

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