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DYM Gene Smith-McCort dysplasia NGS Genetic Test

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DYM Gene Smith-McCort dysplasia NGS Genetic Test

Short Name: Smith-McCort Dysplasia NGS Test

Also known as: Dyggve-Melchior-Clausen syndrome

DYM Gene Smith-McCort dysplasia 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 TestAll Ages🏠 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 identify pathogenic mutations in the DYM gene for the diagnosis of Smith-McCort dysplasia, aiding in clinical confirmation, genetic counseling, and management planning.

Test Code
2482
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

No specific preparation required. Provide clinical history and genetic counseling information.

Method: Venipuncture or FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per guidelines.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and undergo genetic counseling to draw a pedigree chart.
2
During the Test:Sample collection via blood draw or FTA card; minimal discomfort expected.
3
After the Test:Results will be available in 3 to 4 weeks; follow-up with a geneticist for interpretation.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the DYM gene for the diagnosis of Smith-McCort dysplasia, aiding in clinical confirmation, genetic counseling, and management planning.

How to Prepare

  • Ensure patient identification is correct
  • Use sterile collection tubes or FTA cards
  • Label samples accurately with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"As an OB-GYN, I recommend this test for families with a history of skeletal dysplasias to aid in diagnosis, genetic counseling, 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 or FTA card

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood samples
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the DYM Gene Smith-McCort Dysplasia NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider in the context of clinical symptoms and family history.
Positive result: Pathogenic variants in the DYM gene confirm diagnosis of Smith-McCort dysplasia.
Negative result: No pathogenic variants detected; clinical correlation may be needed.
Variant of uncertain significance (VUS): Further testing or family studies may be required.
Genetic counseling is recommended for all results to discuss implications and recurrence risks.
⚠️ When to Consult a Doctor:

Consult a doctor if you or a family member exhibit symptoms such as short stature, scoliosis, joint issues, or developmental delays, or if there is a known family history of Smith-McCort dysplasia.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Results require correlation with clinical findings and family history
  • ⚠Cannot predict disease severity or progression accurately

Risks & Considerations

  • ●Minimal physical risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, including anxiety or stress
  • ●Potential for incidental findings unrelated to Smith-McCort dysplasia

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Recent blood transfusions may affect results
  • ●Technical errors in sample processing

Frequently Asked Questions

What is Smith-McCort dysplasia?
Smith-McCort dysplasia, also known as Dyggve-Melchior-Clausen syndrome, is a rare genetic disorder that affects bone growth and development, leading to skeletal abnormalities such as short stature and scoliosis.
What causes Smith-McCort dysplasia?
It is caused by mutations in the DYM gene, which provides instructions for making a protein essential for bone growth. The condition is inherited in an autosomal recessive pattern.
How is the DYM Gene Smith-McCort Dysplasia NGS Genetic Test performed?
The test uses next-generation sequencing (NGS) technology to analyze DNA from blood or extracted samples for mutations in the DYM gene, providing detailed genetic information.
What are the symptoms of Smith-McCort dysplasia?
Symptoms include short stature, abnormal curvature of the spine, joint pain and stiffness, vision and hearing problems, developmental delays, and intellectual disability.
Who should consider getting this genetic test?
Individuals with symptoms of Smith-McCort dysplasia, a family history of the condition, or those seeking genetic counseling for skeletal disorders should consider this test.
What is the cost of the DYM Gene Smith-McCort Dysplasia NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India at no additional charge.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
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, including Mumbai, Delhi, Bangalore, and more.
What do the test results indicate?
Results can confirm the presence of pathogenic mutations in the DYM gene, aiding in diagnosis. A negative result may require further clinical evaluation.
Can this test be used for prenatal diagnosis?
While primarily for postnatal diagnosis, genetic counseling can discuss options for prenatal testing if there is a known family history, but this test itself is not typically used prenatally.
Are there any risks associated with the genetic test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact from results. Genetic counseling is provided to address concerns.
How accurate is the NGS genetic test for Smith-McCort dysplasia?
NGS technology is highly accurate for detecting mutations in the DYM gene, but results should be interpreted alongside clinical findings and family history by a genetic specialist.
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

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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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