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DYM Gene Dyggve-Melchior-Clausen disease NGS Genetic Test

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DYM Gene Dyggve-Melchior-Clausen disease NGS Genetic Test

Short Name: DMC NGS Genetic Test

Also known as: DMC disease, Dymeclin deficiency

DYM Gene Dyggve-Melchior-Clausen disease 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.

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 mutations in the DYM gene for accurate diagnosis of Dyggve-Melchior-Clausen disease, enabling appropriate management and genetic counseling.

Test Code
4676
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 review and genetic counseling session recommended to draw a pedigree chart of affected family members.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Standard blood draw procedure using venipuncture or finger-prick for FTA card.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and obtain informed consent.
2
During the Test:Blood sample collection via venipuncture or finger-prick for FTA card.
3
After the Test:Results are available in 3-4 weeks. Follow-up counseling recommended for result interpretation.

About This Test

Who Should Get This Test

To detect mutations in the DYM gene for accurate diagnosis of Dyggve-Melchior-Clausen disease, enabling appropriate management and genetic counseling.

How to Prepare

  • Fasting is not required
  • Avoid hemolysis by proper sample handling
  • Use sterile collection tubes or FTA cards
  • Ensure accurate patient identification

Doctor's Notes

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

"This test is crucial for confirming DMC diagnosis, guiding management, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood: Store at 2-8°C for up to 48 hours
Extracted DNA: Stable at room temperature for several days
FTA card: Stable at room temperature for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improper labeling or identification
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DYM gene, which are associated with Dyggve-Melchior-Clausen disease.
Positive: Pathogenic mutation detected, consistent with DMC diagnosis
Negative: No pathogenic variants detected, but clinical correlation is needed
Variant of Uncertain Significance (VUS): Further testing or family studies may be required
Carrier status: One mutation detected, indicating carrier for autosomal recessive inheritance
⚠️ When to Consult a Doctor:

If symptoms of DMC are present, such as skeletal abnormalities or developmental delays, or if there is a family history of the disease. Consult a geneticist or specialist for diagnosis and management.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Requires genetic counseling for proper interpretation
  • ⚠Results may have variants of uncertain significance (VUS)

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, including anxiety or distress
  • ●Potential for uncertain results requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestDYM Gene Dyggve-Melchior-Clausen disease NGS Genetic TestWhole Exome Sequencing (WES)Skeletal Dysplasia Gene PanelChromosomal Microarray AnalysisFISH for Specific Genes
ComparisonDYM Gene Dyggve-Melchior-Clausen disease NGS Genetic Test

Frequently Asked Questions

What is Dyggve-Melchior-Clausen disease (DMC)?
DMC is a rare genetic disorder affecting skeletal development, caused by mutations in the DYM gene, leading to symptoms like short stature and intellectual disability.
How is DMC diagnosed?
Diagnosis involves clinical evaluation and genetic testing, specifically NGS to detect mutations in the DYM gene.
What does the DYM Gene NGS Genetic Test involve?
It analyzes the DYM gene using next-generation sequencing to identify mutations associated with DMC, requiring a blood or DNA sample.
What is the cost of this test?
The test costs INR 20000, with free home sample collection available across India.
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 in 3 to 4 weeks after sample collection.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications and interpret results.
Can this test detect all mutations in the DYM gene?
NGS is highly accurate but may not detect all mutation types, such as large deletions; limitations should be discussed with a geneticist.
Is the test covered by insurance?
Genetic testing for rare diseases like DMC may not be covered by insurance; check with your provider for details.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted samples.
Who should consider this test?
Individuals with symptoms of DMC, such as skeletal abnormalities or developmental delays, or those with a family history of the disease.
What are the risks of the test?
Risks are minimal, including bruising from blood draw and potential psychological impact from results; genetic counseling helps mitigate these.
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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