GUSB Gene Mucopolysaccharidosis type 7 NGS Genetic Test
Short Name: GUSB MPS VII NGS Test
Also known as: GUSB Gene Sequencing Test, MPS VII Genetic Test, Beta-Glucuronidase Gene Test, Sly Syndrome NGS Test, GUSB Mutation Analysis
GUSB Gene Mucopolysaccharidosis type 7 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), DNA Extraction from Blood or FTA Card, Bioinformatic Analysis and Variant Calling on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. 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 the GUSB Gene Mucopolysaccharidosis Type VII NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the GUSB gene through next-generation sequencing technology. This test is used for confirmatory molecular diagnosis of MPS VII, carrier detection in at-risk family members, prenatal or preimplantation genetic diagnosis for families with known mutations, genotype-phenotype correlation for clinical management, and eligibility assessment for emerging therapeutic interventions such as enzyme replacement therapy.
- Test Code
- 2199
- CPT Code
- 81405
- ICD Code
- E76.29
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), DNA Extraction from Blood or FTA Card, Bioinformatic Analysis and Variant Calling
Sample Collection
No special preparation or fasting is required before sample collection. Ensure the patient's clinical history and family pedigree information are documented as part of pre-test genetic counseling.
Method: Venipuncture / FTA Card Prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood can be placed on an FTA card. The sample is labeled and transported under ambient room temperature conditions.
Report Delivery
After collection, the blood sample is processed in the laboratory for DNA extraction followed by NGS library preparation and sequencing. The report is delivered within 3-4 weeks through the online portal, email, or WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GUSB Gene Mucopolysaccharidosis Type VII NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the GUSB gene through next-generation sequencing technology. This test is used for confirmatory molecular diagnosis of MPS VII, carrier detection in at-risk family members, prenatal or preimplantation genetic diagnosis for families with known mutations, genotype-phenotype correlation for clinical management, and eligibility assessment for emerging therapeutic interventions such as enzyme replacement therapy.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender-top) vacutainer under aseptic conditions
- Alternatively, collect one drop of peripheral blood on a provided FTA card and allow it to dry completely
- Label the sample clearly with patient name, date of birth, and unique sample ID
- Store and transport the sample at ambient room temperature; avoid extreme heat or freezing
- Ensure the sample reaches the laboratory within 72 hours of collection for optimal DNA quality
- If using an FTA card, avoid touching the blood spot area and store in a sealed pouch with desiccant
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mucopolysaccharidosis Type VII is a rare lysosomal storage disorder that may present with prenatal hydrops fetalis or postnatal skeletal and organ abnormalities. Early genetic testing using NGS technology enables timely identification of pathogenic GUSB variants, allowing families to pursue informed reproductive decisions and early supportive management. I recommend this test for families with a history of MPS or unexplained fetal hydrops, as well as for individuals presenting with characteristic skeletal dysplasia, hepatosplenomegaly, or developmental delay of unknown etiology."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Samples without proper labeling or identification
- EDTA blood samples received after 72 hours of collection without appropriate storage documentation
- Samples with insufficient volume (less than 2 mL)
- FTA cards with incomplete or damaged blood spots
Understanding Your Results
Molecular diagnosis of Mucopolysaccharidosis Type VII (Sly Syndrome) is confirmed. Genotype-phenotype correlation should be performed to predict disease severity. Genetic counseling and evaluation for therapeutic options are recommended.
High
Patient is a carrier of MPS VII. Carrier testing of parents and genetic counseling are recommended. If clinical symptoms are present, additional testing such as enzyme assay or deletion/duplication analysis should be considered.
Moderate
The clinical significance of the variant(s) cannot be determined at this time. Family segregation studies, functional assays, and follow-up with updated databases are recommended for reclassification.
Uncertain
No disease-causing mutations were identified in the GUSB gene by NGS. This does not completely exclude MPS VII if large deletions/duplications are suspected. Correlation with enzyme activity assays and clinical findings is advised.
Negative
The detected variants are not associated with MPS VII. No molecular evidence of disease. Clinical correlation is recommended if symptoms persist.
Low
Consult a clinical geneticist or pediatric metabolic specialist if the test reveals pathogenic variants in the GUSB gene, if a variant of uncertain significance is identified, or if clinical symptoms of MPS VII persist despite a negative genetic test. Immediate consultation is recommended for patients with non-immune hydrops fetalis, progressive multisystem disease, or a family history of confirmed MPS VII who are planning pregnancy.
Limitations
- ⚠This test does not detect large deletions, duplications, or structural rearrangements in the GUSB gene; additional methods such as MLPA or chromosomal microarray may be required
- ⚠Deep intronic regulatory region variants outside the sequenced target region may not be identified
- ⚠Variants of Uncertain Significance (VUS) may be detected and may require further family studies or functional analysis for reclassification
- ⚠This test does not measure beta-glucuronidase enzyme activity; enzyme assays may be recommended as a complementary investigation
- ⚠Negative results do not entirely exclude MPS VII if clinical suspicion is high; other genetic or non-genetic etiologies should be explored
Risks & Considerations
- ●Minimal risk associated with blood collection, including slight bruising or discomfort at the venipuncture site
- ●Emotional impact of genetic test results, particularly in cases of confirmed diagnosis or carrier detection
- ●Potential for identification of Variants of Uncertain Significance that may cause anxiety without clear clinical guidance
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample may affect sequencing results
- ●Recent blood transfusion within the past 4-6 weeks may lead to mixed DNA profiles
- ●Low-quality sample on FTA card due to improper storage or handling
- ●Presence of somatic mosaicism may result in variant allele frequencies below detection thresholds
Compare With Similar Tests
| Test | GUSB Gene Mucopolysaccharidosis type 7 NGS Genetic Test | Beta-Glucuronidase Enzyme Activity Assay | Sanger Sequencing of GUSB Gene | Urinary GAG Analysis | MLPA (Multiplex Ligation-dependent Probe Amplification) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|---|
| Comparison | GUSB Gene Mucopolysaccharidosis type 7 NGS Genetic Test |
Frequently Asked Questions
What is the GUSB Gene Mucopolysaccharidosis Type VII NGS Genetic Test?
What is Mucopolysaccharidosis Type VII (Sly Syndrome)?
Who should consider getting the GUSB Gene NGS Genetic Test?
What sample is required for the GUSB Gene NGS Genetic Test?
How long does it take to get the results of the GUSB Gene NGS Genetic Test?
What does it mean if pathogenic variants are found in the GUSB gene?
What is a Variant of Uncertain Significance (VUS)?
Can the GUSB Gene NGS Genetic Test detect all types of mutations?
Is the GUSB Gene NGS Genetic Test suitable for prenatal diagnosis?
Is genetic counseling required before taking the GUSB Gene NGS Genetic Test?
What is the cost of the GUSB Gene Mucopolysaccharidosis Type VII NGS Genetic Test?
Does DNA Labs India provide raw data and VCF files with the genetic test report?
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