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HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test

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HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test

Also known as: Dyssegmental dysplasia Silverman-Handmaker type, HSPG2-related skeletal dysplasia

HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type 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.

Next-Generation Sequencing (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify pathogenic mutations in the HSPG2 gene associated with dyssegmental dysplasia, Silverman-Handmaker type, enabling definitive diagnosis, guiding treatment decisions, and facilitating genetic counseling for patients and families.

Test Code
4902
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

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 or FTA Card

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or collection of a blood drop on an FTA card, performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and shipped to the lab under controlled conditions for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are mandatory before sample collection.
2
During the Test:Blood sample collection is a minimally invasive procedure with minimal discomfort.
3
After the Test:Results are available in 3-4 weeks; follow-up with a geneticist is advised for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the HSPG2 gene associated with dyssegmental dysplasia, Silverman-Handmaker type, enabling definitive diagnosis, guiding treatment decisions, and facilitating genetic counseling for patients and families.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is collected in a sterile environment
  • Label sample correctly with patient details

Doctor's Notes

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

"This NGS test is essential for confirming dyssegmental dysplasia, Silverman-Handmaker type, enabling early intervention and family counseling for affected individuals."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Room temperatureUp to 48 hours for blood on FTA card
RefrigeratedUp to 7 days for extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the HSPG2 gene. Positive results confirm dyssegmental dysplasia, Silverman-Handmaker type, while negative results may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of dyssegmental dysplasia, Silverman-Handmaker type; genetic counseling recommended.

📊

No pathogenic variant detected

Does not rule out the disorder; consider other genetic or clinical causes.

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms such as short stature, skeletal abnormalities, or family history of dyssegmental dysplasia are present.

Limitations

  • ⚠May not detect all genetic variants or mosaicism
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Hemolyzed or degraded DNA samples
  • ●Incorrect sample storage or handling

Frequently Asked Questions

What is dyssegmental dysplasia, Silverman-Handmaker type?
It is a rare genetic disorder affecting bone and cartilage development, caused by mutations in the HSPG2 gene.
What are the common symptoms of this disorder?
Symptoms include short stature, disproportionate limbs, spinal curvatures, facial abnormalities, and respiratory problems.
How is dyssegmental dysplasia diagnosed?
Diagnosis involves physical examination, X-rays, and genetic testing such as NGS for HSPG2 gene mutations.
What does the NGS Genetic Test involve?
It uses next-generation sequencing to detect mutations in the HSPG2 gene from a blood or DNA sample.
What is the cost of the HSPG2 Gene NGS Test at DNA Labs India?
The test costs INR 20000, with free home sample collection available across India.
Is fasting required for this test?
No, fasting is not required for sample collection.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for this test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings.
What should I do if the test result is positive?
Consult a geneticist for confirmation, management options, and genetic counseling for family planning.
Is genetic counseling recommended before testing?
Yes, a genetic counseling session is advised to understand the test implications and draw a family pedigree chart.
Are there any risks associated with this test?
Risks are minimal, such as minor bruising from blood draw, but emotional impacts of results should be considered.
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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