HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic Test
Short Name: HSPG2 Gene SJS1 NGS Test
Also known as: HSPG2 NGS mutation analysis, Perlecan gene test, Schwartz-Jampel syndrome type 1 genetic test
HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation of reported variants on Blood (EDTA), Extracted DNA, or FTA Card Blood Spot samples. Results in Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent processing may be available on request.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect sequence variants in the HSPG2 gene that can confirm or exclude Schwartz-Jampel syndrome type 1. It also supports carrier testing for at-risk family members and helps guide reproductive planning when combined with genetic counseling.
- Test Code
- 4498
- Price
- ₹20,000
- Sample Type
- Blood (EDTA), Extracted DNA, or FTA Card Blood Spot
- Result Time
- Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent processing may be available on request.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation of reported variants
Sample Collection
No special preparation such as fasting is needed. Provide a detailed clinical history and family pedigree. Genetic counseling is recommended before the test. Bring previous medical records, imaging reports or specialist evaluations if available.
Method: Venipuncture or finger-prick blood spot on FTA card
Laboratory Analysis
A small blood sample is collected from a vein using a sterile needle. If an FTA card is used, a few drops of blood are placed on the card. The procedure is quick and is performed by a trained phlebotomist.
Report Delivery
No restrictions are required after sample collection. You may return to normal daily activities immediately.
Timeline: Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. Urgent processing may be available on request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect sequence variants in the HSPG2 gene that can confirm or exclude Schwartz-Jampel syndrome type 1. It also supports carrier testing for at-risk family members and helps guide reproductive planning when combined with genetic counseling.
How to Prepare
- Blood should be collected in an EDTA vacutainer, or alternatively on an FTA card, or extracted DNA should be provided.
- Label the sample tube with your name, date of birth and date/time of collection.
- Samples should be transported at ambient temperature in a proper sample transport bag with absorbent material.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A targeted HSPG2 gene test can confirm SJS1 and may help at-risk couples make informed decisions after genetic counseling. I recommend including a neurologist and clinical geneticist in the patient's evaluation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or severely clotted blood sample
- Incorrectly labeled or unlabeled sample
- Quantity not sufficient for testing
- Sample transported after more than 72 hours without proper cold storage
Understanding Your Results
Pathogenic or likely pathogenic variant detected in HSPG2
Supports the diagnosis of Schwartz-Jampel syndrome type 1
No pathogenic variant detected
SJS1 is less likely, but clinical suspicion should still be considered for further evaluation
Variant of uncertain significance (VUS) detected
Cannot establish or exclude the diagnosis; family segregation studies may be useful
Single heterozygous pathogenic variant in autosomal recessive SJS1
Carrier status is present; individual is not expected to have SJS1 but partner testing and genetic counseling are advised
Consult a neurologist or clinical geneticist if you or your child have persistent muscle stiffness, skeletal abnormalities, short stature or joint contractures, or if there is a known family history of Schwartz-Jampel syndrome. A genetic counselor can also help you understand the benefits, limits and possible results of genetic testing before and after the test.
Limitations
- ⚠NGS may not detect all types of mutations, including large deletions/duplications or deep intronic variants.
- ⚠A negative result does not completely exclude SJS1 if clinical suspicion remains high.
- ⚠Variants of uncertain significance may require additional testing of family members.
- ⚠Diagnostic interpretation requires integration with clinical, radiological and biochemical findings.
Risks & Considerations
- ●Minimal pain or bruising at the blood collection site
- ●Rare chance of bleeding or infection from venipuncture
Interfering Factors
- ●Poor DNA quality or quantity
- ●DNA degradation due to improper storage or transport
- ●Sample contamination or mislabeling
- ●Very large structural rearrangements may not be detected by NGS alone
Compare With Similar Tests
| Test | HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
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Is fasting required before the HSPG2 NGS genetic test?
How long will the report take?
What is the HSPG2 gene?
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