Test Code MPS3B Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot
Necessary Information
1. Patient's age is required.
2. Reason for testing is required
Specimen Required
Submit only 1 of the following specimen types:
Preferred:
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood Spot Collection Card
Acceptable: Whatman Protein Saver 903 Paper, PerkinElmer 226 filter paper, Munktell filter paper, or blood collected in tubes containing ACD or EDTA and dried on filter paper.
Specimen Volume: 2 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect a Dried Blood Spot Sample.
2. At least 2 spots should be complete (ie, unpunched).
3. Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Specimen Stability Information: Refrigerated (preferred) 60 days/Ambient 7 days/Frozen 60 days
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).
Acceptable:
Specimen Type: Whole Blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Refrigerate (preferred) 7 days/Ambient 48 hours
Genetics Test Information
This test provides diagnostic testing for individuals with clinical signs and symptoms suspicious for mucopolysaccharidosis type IIIA, IIIB or IIIC. Enzymatic analysis for mucopolysaccharidosis (MPS) IIID is not included in this assay, however it is included in test MPS3W / Mucopolysaccharidosis III, Four-Enzyme Panel, Leukocytes. If an enzyme deficiency is detected by this screening test, additional biochemical or molecular testing is required to confirm a diagnosis.
Reflex Tests
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
MPSBS | Mucopolysaccharidosis, BS | Yes | No |
Specimen Type
Whole bloodSpecimen Minimum Volume
Blood spots: 1; Whole blood: 0.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Whole blood | Varies |
Reject Due To
Blood spot specimen that shows serum rings or has multiple layers | Reject |
Insufficient specimen | Reject |
Unapproved filter papers | Reject |
Reference Values
Heparan-N-sulfatase:
>0.06 nmol/mL/h
N-acetyl-alpha-D-glucosaminidase:
>0.70 nmol/mL/h
Heparan-alpha-glucosaminide N-acetyltransferase:
>0.50 nmol/mL/h
An interpretive report will be provided.
Day(s) Performed
Thursday
Report Available
3 to 9 daysSpecimen Retention Time
1 yearPerforming Laboratory

CPT Code Information
82657
83864 (if appropriate)