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HelpTest Code MP8BS Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot
Ordering Guidance
To evaluate newborn patients in follow-up to an abnormal newborn screen for MPSI, the recommended tests are IDUAW / Alpha-L-Iduronidase, Leukocytes and MPSBS / Mucopolysaccharidosis, Blood Spot, MPSWB / Mucopolysaccharidosis, Blood, MPSER / Mucopolysaccharides Quantitative, Serum or MPSQU / Mucopolysaccharides Quantitative, Random, Urine.
To evaluate newborn patients in follow-up to an abnormal newborn screen for MPSII, the recommended tests are I2SB / Iduronate-2-Sulfatase, Blood Spot or I2SWB / Iduronate-2-Sulfatase, Leukocytes and MPSBS / Mucopolysaccharidosis, Blood Spot, MPSWB / Mucopolysaccharidosis, Blood, MPSER / Mucopolysaccharides Quantitative, Serum or MPSQU / Mucopolysaccharides Quantitative, Random, Urine.
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 1 year of age or older is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
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
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Secondary ID
616836Useful For
Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency
This test is not useful for carrier detection.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| MPSBS | Mucopolysaccharidosis, BS | Yes | No |
Testing Algorithm
Testing begins with screening for mucopolysaccharidoses. If results are normal or indicate mucopolysaccharidosis VII, testing is complete.
If results indicate mucopolysaccharidoses II, IIIA, IIIB, IIIC, IVA, IVB, or VI, quantitation of heparan sulfate, dermatan sulfate and keratan sulfate may be performed at an additional charge.
Special Instructions
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Specimen Type
Whole bloodSpecimen Minimum Volume
Blood Spots: 1
Whole Blood: 0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| 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
Iduronate-2-sulfatase: >4.30 nmol/mL/hour
Heparan-N-sulfatase: >0.06 nmol/mL/hour
N-acetyl-alpha-D-glucosaminidase: >0.70 nmol/mL/hour
Heparan-alpha-glucosaminide N-acetyltransferase: >0.50 nmol/mL/hour
N-acetylgalactosamine-6-sulfatase: >0.70 nmol/mL/hour
Beta-galactosidase: >1.30 nmol/mL/hour
Arylsulfatase B: >0.90 nmol/mL/hour
Beta-glucuronidase: >2.60 nmol/mL/hour
An interpretive report will be provided.
Interpretation
Abnormal results are not sufficient to establish a diagnosis of a particular disease. To verify a preliminary diagnosis based on this assay, additional biochemical or molecular genetic analyses are required.
When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro, confirmatory studies (enzyme assay, molecular genetic analysis), and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Method Description
One dried blood spot sample (DBS) is incubated with a mix of substrate and internal standard (IS) for iduronate 2-sulfatase, heparan N-sulfatase, alpha-N-acetylglucosaminidase, N-acetylgalactosamine-sulfate, beta-galactosidase, arylsulfatase B, beta-glucuronidase, and tripeptidyl peptidase 1. A second DBS sample is incubated with a mix of substrate and IS for acetyl-CoA:alpha-glucosaminide N-acetyltransferase; and a third DBS sample with a mix of substrate and IS for palmitoyl-protein thioesterase 1. Following overnight incubation, the samples are combined, extracted by liquid-liquid extraction, and analyzed by tandem mass spectrometry.(Unpublished Mayo method)
Day(s) Performed
Thursday
Report Available
8 to 15 daysSpecimen Retention Time
1 yearPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82657
83864 (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MP8BS | MPS (Eight) Panel, BS | 104112-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| BG743 | Reason for Referral | 42349-1 |
| 618405 | Iduronate-2-sulfatase | 79462-8 |
| 618406 | Heparan-N-sulfatase | 104113-6 |
| 618407 | N-acetyl-alpha-D-glucosaminidase | 104114-4 |
| 618408 | Heparan-alpha-glucosaminide N-acetyltransferase | 104115-1 |
| 618409 | N-acetylgalactosamine-6-sulfatase | 88019-5 |
| 618410 | Beta-galactosidase | 55916-1 |
| 618411 | Arylsulfatase B | 55912-0 |
| 618412 | Beta-glucuronidase | 79457-8 |
| 618413 | Interpretation | 59462-2 |
| 618404 | Reviewed By | 18771-6 |