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DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test

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DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test

Short Name: DDR2 SMED-SL NGS Test

Also known as: Spondylometaphyseal dysplasia, short limb-hand type (SMD-SLH)

DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the DDR2 Gene SMED-SL NGS Genetic Test is to identify mutations in the DDR2 gene that cause Spondylometaepiphyseal dysplasia, short limb-hand type. This test confirms diagnosis, aids in differential diagnosis of skeletal dysplasias, guides treatment and management strategies, and supports genetic counseling for family planning.

Test Code
5136
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 to draw a pedigree chart of family members affected with SMED-SL.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection of one drop blood on FTA card.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis. Results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session and clinical history review.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Wait for 3 to 4 weeks for results, which will be delivered online or via email/WhatsApp.

About This Test

Who Should Get This Test

The purpose of the DDR2 Gene SMED-SL NGS Genetic Test is to identify mutations in the DDR2 gene that cause Spondylometaepiphyseal dysplasia, short limb-hand type. This test confirms diagnosis, aids in differential diagnosis of skeletal dysplasias, guides treatment and management strategies, and supports genetic counseling for family planning.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is collected in appropriate container
  • Label sample correctly with patient details

Doctor's Notes

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

"Genetic testing for DDR2 mutations is crucial for confirming SMED-SL 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 blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample: stable at room temperature for 24 hours
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect labeling or container

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the DDR2 gene. Positive results confirm SMED-SL diagnosis, while negative results may require further testing if clinical suspicion remains high.
📊

No pathogenic variants detected

Normal result; SMED-SL unlikely based on DDR2 gene analysis.

📊

Pathogenic variants detected

Abnormal result; confirms SMED-SL diagnosis. Genetic counseling recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as short stature, disproportionate limbs, scoliosis, or joint pain are present, or if there is a family history of SMED-SL or similar genetic disorders.

Limitations

  • ⚠May not detect all types of DDR2 mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

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

Frequently Asked Questions

What is DDR2 Gene SMED-SL NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to analyze the DDR2 gene for mutations causing Spondylometaepiphyseal dysplasia, short limb-hand type (SMED-SL), a rare bone growth disorder.
What is the cost of the test?
The cost at DNA Labs India is INR 20000, which includes sample collection, analysis, and genetic counseling.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to detect mutations in the DDR2 gene.
What are the symptoms of SMED-SL?
Symptoms include short stature with disproportionately short limbs and hands, scoliosis, abnormal bone development, joint pain, and breathing difficulties.
How is SMED-SL inherited?
SMED-SL is inherited in an autosomal recessive pattern, meaning both parents must carry one mutated DDR2 gene copy for a child to be affected.
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.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What if the test is positive?
A positive result confirms SMED-SL diagnosis. Genetic counseling is recommended to discuss management, treatment options, and family planning.
Can carriers of DDR2 mutations show symptoms?
Carriers with one mutated DDR2 gene copy usually do not show symptoms of SMED-SL but can pass the mutation to offspring.
Is the test covered by insurance?
Coverage depends on your insurance policy. Check with your provider for details on genetic test coverage.
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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✓ 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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