ARSB Gene Mucopolysaccharidosis type 6 NGS Genetic Test
Short Name: ARSB Gene MPS VI NGS Test
Also known as: MPS VI Genetic Test, Maroteaux-Lamy Syndrome Genetic Test, ARSB Mutation Analysis, N-acetylgalactosamine-4-sulfatase Deficiency Test, Mucopolysaccharidosis Type 6 DNA Test
ARSB Gene Mucopolysaccharidosis type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation), Bioinformatic Analysis 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. Reports are delivered via the selected method: Online Portal, Email, or WhatsApp.. 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 primary purpose of the ARSB Gene Mucopolysaccharidosis Type VI NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ARSB gene to confirm or rule out a diagnosis of Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome). The test also serves to identify asymptomatic carriers within families, guide genetic counseling and family planning decisions, and support prenatal or preimplantation genetic diagnosis in at-risk families.
- Test Code
- 2200
- CPT Code
- 81479
- ICD Code
- E76.21
- 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. Reports are delivered via the selected method: Online Portal, Email, or WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation), Bioinformatic Analysis
Sample Collection
No fasting is required prior to sample collection. Inform the laboratory or collection team of any recent blood transfusions (within the past 4 weeks) or history of bone marrow or stem cell transplant. A genetic counseling session is recommended before the test to discuss clinical history, implications of results, and to construct a detailed family pedigree chart of affected family members with Mucopolysaccharidosis Type VI.
Method: Venipuncture or Finger Prick (for FTA Card)
Laboratory Analysis
A trained phlebotomist will collect 3 to 5 mL of venous blood via standard venipuncture into an EDTA (lavender top) vacutainer tube. Alternatively, one drop of blood may be collected on an FTA card via finger prick. The procedure typically takes 5 to 10 minutes and involves minimal discomfort.
Report Delivery
Apply gentle pressure to the puncture site with sterile cotton for 3 to 5 minutes to prevent bruising. No special post-collection care is required. The sample will be transported under appropriate conditions to the testing laboratory. Results will be communicated within 3 to 4 weeks through the selected report delivery method (Online Portal, Email, or WhatsApp).
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via the selected method: Online Portal, Email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the ARSB Gene Mucopolysaccharidosis Type VI NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the ARSB gene to confirm or rule out a diagnosis of Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome). The test also serves to identify asymptomatic carriers within families, guide genetic counseling and family planning decisions, and support prenatal or preimplantation genetic diagnosis in at-risk families.
How to Prepare
- Collect 3 to 5 mL of venous blood in an EDTA (lavender top) vacutainer tube via standard venipuncture technique, OR apply one drop of blood on an FTA collection card via finger prick.
- Properly label the sample container with patient full name, date of birth, unique patient ID, date and time of collection, and collector's initials.
- Ensure the FTA card is completely air-dried before placing it in the protective envelope.
- Store the blood sample at ambient room temperature (15°C to 30°C). Do not freeze.
- Transport the sample to the laboratory within 72 hours of collection.
- Include the completed test requisition form and informed consent form with the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mucopolysaccharidosis Type VI is a rare but clinically significant lysosomal storage disorder. Early genetic diagnosis through NGS-based ARSB gene analysis enables timely clinical management, accurate carrier identification in families, and informed reproductive decision-making. I recommend this test for any individual presenting with characteristic skeletal, cardiac, or hepatosplenic findings suggestive of MPS VI, as well as for carrier screening in families with a known history of the condition."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Samples without proper patient identification or labeling
- Insufficient sample volume (less than 2 mL of blood)
- Samples received after 72 hours of collection without prior arrangement
- Contaminated samples or samples collected in incorrect tubes (e.g., heparin instead of EDTA)
- FTA cards with incomplete blood application or mold/moisture damage
Understanding Your Results
No Pathogenic Variants Detected (Negative)
No pathogenic or likely pathogenic variants were identified in the ARSB gene coding regions and flanking intronic sequences. This result reduces the likelihood of MPS VI being the diagnosis, but does not completely exclude it if the causative mutation lies in deep intronic or regulatory regions not covered by this test. Clinical correlation is advised.
Pathogenic or Likely Pathogenic Variant(s) Detected (Positive - Homozygous)
Two pathogenic or likely pathogenic variants were identified in the ARSB gene in a homozygous or compound heterozygous state. This result confirms the molecular diagnosis of Mucopolysaccharidosis Type VI. Genetic counseling is strongly recommended for the patient and family members.
Pathogenic or Likely Pathogenic Variant(s) Detected (Positive - Heterozygous / Carrier)
One pathogenic or likely pathogenic variant was identified in the ARSB gene. The individual is a carrier of MPS VI. Carriers are typically unaffected but can pass the variant to offspring. Carrier testing of the partner and genetic counseling are recommended for family planning purposes.
Variant(s) of Uncertain Significance (VUS) Identified
One or more variants of uncertain significance were detected in the ARSB gene. The clinical significance of these variants is currently unknown based on available evidence. Additional testing, family studies, and clinical correlation are recommended. Results should be reclassified as new evidence becomes available.
Consult your doctor or a clinical geneticist if you or your child exhibits any of the following symptoms: delayed growth and short stature, progressive skeletal abnormalities or dysostosis multiplex, joint stiffness and restricted mobility, corneal clouding, recurrent respiratory infections, cardiac murmur or valve abnormalities, enlarged liver and spleen, hearing loss, or if there is a known family history of Mucopolysaccharidosis Type VI or ARSB gene mutations. Early diagnosis and intervention can significantly improve clinical outcomes and quality of life.
Limitations
- ⚠This test may not detect large genomic deletions, duplications, or structural rearrangements in the ARSB gene. Additional testing such as MLPA (Multiplex Ligation-dependent Probe Amplification) may be required for comprehensive evaluation.
- ⚠Variants of uncertain significance (VUS) may be identified. Clinical correlation and family studies are recommended for interpretation.
- ⚠This test does not assess arylsulfatase B enzyme activity. Biochemical enzyme assay may be recommended alongside genetic testing for a complete diagnostic workup.
- ⚠This test does not screen for mutations in other genes associated with mucopolysaccharidoses or related lysosomal storage disorders.
- ⚠Negative results do not completely exclude the possibility of MPS VI if the causative mutation lies outside the regions covered by this test.
Risks & Considerations
- ●Minimal risk associated with blood collection: minor bruising, pain, or slight bleeding at the venipuncture site
- ●Rarely, slight risk of infection at the needle insertion site
- ●Potential psychological impact of receiving genetic results, especially if pathogenic variants or carrier status is identified. Genetic counseling is recommended before and after testing to address emotional concerns.
Interfering Factors
- ●Recent blood transfusion (within the past 4 weeks) may dilute patient DNA with donor DNA and affect results
- ●Bone marrow or stem cell transplant may result in donor-derived DNA being analyzed instead of patient DNA
- ●Degraded or improperly stored DNA samples may yield insufficient coverage for accurate variant detection
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Frequently Asked Questions
What is Mucopolysaccharidosis Type VI (MPS VI)?
What is the ARSB Gene Mucopolysaccharidosis Type VI NGS Genetic Test?
Who should consider getting the ARSB Gene MPS VI NGS Genetic Test?
What sample is required for the ARSB Gene NGS Genetic Test?
Is fasting required before the ARSB Gene MPS VI NGS Genetic Test?
How long does it take to receive the results of the ARSB Gene NGS Genetic Test?
What is the cost of the ARSB Gene MPS VI NGS Genetic Test in India?
Is genetic counseling required before taking the ARSB Gene NGS Genetic Test?
Can the ARSB Gene NGS Test identify carriers of MPS VI?
What does a positive result mean for the ARSB Gene MPS VI NGS Genetic Test?
Does DNA Labs India offer home sample collection for the ARSB Gene NGS Test?
Is the ARSB Gene MPS VI NGS Genetic Test covered by health insurance in India?
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