HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test
Short Name: HSPG2 Gene NGS Test
Also known as: Dyssegmental Dysplasia Silverman-Handmaker type Genetic Test, HSPG2 Gene Mutation Testing, Skeletal Dysplasia NGS Panel
HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger confirmation as required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically issued within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect mutations in the HSPG2 gene that cause Dyssegmental dysplasia, Silverman-Handmaker type. This confirms the clinical diagnosis, facilitates family counseling, and informs future reproductive decisions.
- Test Code
- 4015
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically issued within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger confirmation as required
Sample Collection
Clinical History of Patient who is going for HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test: A Genetic Counselling session to draw a pedigree chart of family members affected with HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type.
Method: Venipuncture or FTA card sample
Laboratory Analysis
A small blood sample is collected by a trained phlebotomist. If an FTA card is used, one drop of blood is applied to the card and allowed to air dry completely before sealing.
Report Delivery
No special precautions are required. You may resume normal daily activities immediately.
Timeline: Reports are typically issued within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect mutations in the HSPG2 gene that cause Dyssegmental dysplasia, Silverman-Handmaker type. This confirms the clinical diagnosis, facilitates family counseling, and informs future reproductive decisions.
How to Prepare
- Blood sample should be collected in an EDTA vacutainer
- If FTA card is used, ensure the blood spot is completely dry before placing in the pouch
- Do not expose sample to extreme heat or direct sunlight
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic counseling and a detailed three-generation pedigree are essential to select the appropriate genetic test and to interpret the result in the context of the family."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed sample
- Incorrectly labeled sample
- Insufficient sample volume
- Clotted blood sample in sodium heparin tube
Understanding Your Results
Positive for Pathogenic Mutation
A pathogenic variant in the HSPG2 gene confirms the diagnosis of Dyssegmental dysplasia, Silverman-Handmaker type.
Negative for Pathogenic Mutation
No pathogenic variant was detected in the HSPG2 gene. The clinical diagnosis should be re-evaluated and other genetic causes considered.
Variant of Uncertain Significance (VUS)
A genetic variant with uncertain clinical significance was found. The result should be interpreted with family segregation studies and clinical findings.
If the test report shows a pathogenic mutation, or if you have a family history of the condition, you should consult a clinical geneticist for genetic counseling and reproductive planning.
Limitations
- ⚠NGS does not reliably detect large deletions, deep intronic variants, and repeat expansions
- ⚠Rare variants may be classified as variants of uncertain significance
- ⚠This test is not intended for prenatal diagnosis without prior genetic counseling
Risks & Considerations
- ●No significant risks
- ●Minimal discomfort during blood draw
- ●Possible small bruise at puncture site
Interfering Factors
- ●Maternal cell contamination in prenatal samples
- ●Degraded or fragmented DNA
- ●Recent blood transfusion
- ●Bone marrow transplant
Compare With Similar Tests
| Test | HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test |
Frequently Asked Questions
What is the cost of the HSPG2 gene NGS genetic test?
What sample is needed for the HSPG2 gene NGS test?
Do I need to fast before the test?
How long does it take to get the test report?
Will I receive raw data files with the report?
Does the test detect all types of HSPG2 gene mutations?
Is genetic counseling required before testing?
Who should go for this HSPG2 gene NGS test?
Is the test covered by insurance?
Can this test be used for carrier screening?
Are home sample collection facilities available?
What should I do if the result is positive?
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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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