Mucopolysaccharidosis (MPS) Type 1 (Hurler) Quantitative Blood Test
Short Name: MPS Type 1 Quantitative Blood Test
Also known as: Hurler Syndrome Blood Test, Alpha-L-Iduronidase Enzyme Assay, MPS I Enzyme Activity Test, Hurler Disease Quantitative Test, IDUA Enzyme Quantification
Mucopolysaccharidosis (MPS) Type 1 (Hurler) Quantitative Blood Test test available at DNA Labs India for ₹6,500. Uses Enzyme Assay on Whole Blood samples. Results in Sample accepted daily by 4:00 PM. Reports are delivered within 4 working days of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Ramarao Paidisetty
Consultant Biochemist · Reg: 21504
Last reviewed: September 7, 2026
Overview
The purpose of the MPS Type 1 Quantitative Blood Test is to measure the activity level of the enzyme alpha-L-iduronidase in a patient's blood sample. This test is used to confirm or rule out a diagnosis of Mucopolysaccharidosis Type 1 (Hurler syndrome and its attenuated variants), assess disease severity, support carrier identification in families with a known history of MPS Type 1, and guide clinical decision-making regarding treatment options such as enzyme replacement therapy and hematopoietic stem cell transplantation. It is a critical first-line biochemical test for any patient suspected of having a lysosomal storage disorder.
- Test Code
- 1266
- CPT Code
- 82657
- ICD Code
- E76.01
- Price
- ₹6,500
- Sample Type
- Whole Blood
- Result Time
- Sample accepted daily by 4:00 PM. Reports are delivered within 4 working days of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Enzyme Assay
Sample Collection
No special preparation such as fasting is required. Provide a brief clinical history including presenting symptoms, family history of metabolic disorders, and any prior test results. Inform the phlebotomist about any recent blood transfusions within the past 72 hours, as this may affect results.
Method: Venipuncture
Laboratory Analysis
Approximately 10 mL of whole blood (minimum 7.5 mL) will be drawn via venipuncture. The blood will be collected into 3 Lavender Top (EDTA) tubes or Green Top (Sodium Heparin) tubes. The tubes will be gently mixed by inversion to prevent clotting.
Report Delivery
After sample collection, mild bruising or soreness at the venipuncture site is normal and typically resolves within a few hours. Apply gentle pressure with cotton or a bandage. Avoid strenuous activity with the affected arm for a short period. Results will be available within 4 days of sample receipt at the laboratory.
Timeline: Sample accepted daily by 4:00 PM. Reports are delivered within 4 working days of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MPS Type 1 Quantitative Blood Test is to measure the activity level of the enzyme alpha-L-iduronidase in a patient's blood sample. This test is used to confirm or rule out a diagnosis of Mucopolysaccharidosis Type 1 (Hurler syndrome and its attenuated variants), assess disease severity, support carrier identification in families with a known history of MPS Type 1, and guide clinical decision-making regarding treatment options such as enzyme replacement therapy and hematopoietic stem cell transplantation. It is a critical first-line biochemical test for any patient suspected of having a lysosomal storage disorder.
How to Prepare
- Collect 10 mL whole blood (minimum 7.5 mL) in 3 Lavender Top (EDTA) tubes or Green Top (Sodium Heparin) tubes
- Mix tubes gently by inversion 8-10 times immediately after collection
- Ship the sample refrigerated (2-8°C) to the laboratory
- DO NOT FREEZE the sample under any circumstances
- Ensure the sample reaches the laboratory within 48 hours of collection
- Label the tubes clearly with patient name, date of birth, date and time of collection
- Include a completed test requisition form with brief clinical history and indication for testing
Doctor's Notes
Reviewed by Dr Ramarao Paidisetty — MBBS, MD (Biochemistry) · Reg. No. 21504
"Alpha-L-iduronidase enzyme activity below 1% of normal is consistent with severe MPS Type 1 (Hurler syndrome). Early diagnosis within the first year of life is critical, as hematopoietic stem cell transplantation (HSCT) performed before age 2 years has demonstrated the best neurological and systemic outcomes. I recommend this quantitative blood test for any infant presenting with coarse facial features, recurrent respiratory infections, persistent umbilical hernia, hepatosplenomegaly, and developmental plateau or regression. For families with a known IDUA gene mutation, prenatal or newborn screening should be discussed with a genetic counselor."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Frozen sample received at the laboratory
- Clotted blood sample
- Insufficient sample volume (less than 7.5 mL)
- Sample collected in incorrect tube type (neither EDTA nor Sodium Heparin)
- Sample received more than 48 hours after collection without refrigeration
- Sample received more than 48 hours after collection even if refrigerated
- Hemolyzed sample with severe hemolysis
- Missing or illegible patient identification on the sample tube
Understanding Your Results
Alpha-L-iduronidase enzyme activity is within normal limits. MPS Type 1 (Hurler syndrome) is unlikely. If clinical suspicion remains high, consider repeat testing or molecular genetic analysis.
Clinical action: Correlate with clinical findings. If symptoms persist, consider other lysosomal storage disorders or alternative diagnoses.
Alpha-L-iduronidase enzyme activity is severely deficient or absent. This result is consistent with MPS Type 1 (Hurler syndrome) in its severe form. Immediate clinical correlation and confirmatory testing are essential.
Clinical action: Urgent referral to a clinical geneticist or metabolic specialist. Initiate confirmatory molecular genetic testing (IDUA gene sequencing). Evaluate for enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) eligibility.
Alpha-L-iduronidase enzyme activity is reduced but not absent. This may indicate an attenuated form of MPS Type 1 (Hurler-Scheie or Scheie syndrome) or heterozygous carrier status. Further evaluation is required to differentiate between these possibilities.
Clinical action: Refer to a clinical geneticist for comprehensive evaluation. Molecular genetic testing of the IDUA gene is recommended for definitive diagnosis or carrier confirmation. Genetic counseling should be offered to the family.
If your test results show reduced or absent alpha-L-iduronidase enzyme activity, consult a clinical geneticist or metabolic disease specialist immediately for further evaluation, confirmatory molecular testing, and discussion of available treatment options including enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). If results are normal but clinical symptoms persist, discuss further diagnostic workup with your physician. Families with a known history of MPS Type 1 should consult a genetic counselor regarding carrier testing and reproductive planning.
Limitations
- ⚠This test measures enzyme activity and does not identify specific IDUA gene mutations; molecular genetic testing is required for mutation confirmation
- ⚠Carrier detection through enzyme assay alone may be unreliable; molecular analysis is recommended for definitive carrier status
- ⚠Enzyme activity levels may vary with sample handling, transport conditions, and laboratory methodology
- ⚠Results must always be interpreted in conjunction with clinical presentation, family history, and supplementary investigations
- ⚠The test cannot differentiate between all MPS subtypes; additional enzymatic or molecular tests may be necessary for definitive classification
Risks & Considerations
- ●Mild pain or discomfort at the venipuncture site during blood draw
- ●Minor bruising or hematoma at the puncture site, which typically resolves within a few days
- ●Very rare risk of fainting or lightheadedness during or after blood collection
- ●Extremely rare risk of infection at the puncture site
- ●Possible need for repeat sample collection if the initial sample is rejected due to insufficient volume, hemolysis, or improper handling
Interfering Factors
- ●Hemolyzed blood samples may interfere with accurate enzyme activity measurement
- ●Recent blood transfusion (within 72 hours) may introduce donor enzyme activity and produce false-normal results
- ●Sample storage beyond the recommended stability period (more than 48 hours refrigerated) may degrade enzyme activity
- ●Use of incorrect anticoagulant tubes (not EDTA or Sodium Heparin) may affect assay accuracy
- ●Enzyme activity in leukocytes may vary with the patient's white blood cell count
Compare With Similar Tests
| Test | Mucopolysaccharidosis (MPS) Type 1 (Hurler) Quantitative Blood Test | Quantitative Enzyme Assay (This Test) | Urine Glycosaminoglycans (GAG) Test | IDUA Gene Mutation Analysis (Molecular Genetic Testing) | Lysosomal Enzyme Panel (Multiple Enzymes) | Newborn Screening for Lysosomal Disorders |
|---|---|---|---|---|---|---|
| Comparison | Mucopolysaccharidosis (MPS) Type 1 (Hurler) Quantitative Blood Test |
Frequently Asked Questions
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