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Test Code MP9W Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes


Ordering Guidance


To evaluate newborn patients in follow-up to an abnormal newborn screen for MPS I, 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 MPS II, 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.



Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.



Necessary Information


1. Patient's age is required.

2. Reason for testing is required.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


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. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Useful For

Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency

 

This test is not useful for carrier detection.

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

MPS (Nine) Panel, WBC

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject

Reference Values

Iduronate-2-sulfatase: >2.20 nmol/hour/mg protein

 

Heparan-N-sulfatase: >0.13 nmol/hour/mg protein

 

N-acetyl-alpha-D-glucosaminidase: >0.09 nmol/hour/mg protein

 

Heparan-alpha-glucosaminide N-acetyltransferase: >0.24 nmol/hou/mg protein

 

N-acetylglucosamine-6-sulfatase: >0.03 nmol/hour/mg protein

 

N-acetylgalactosamine-6-sulfatase: >1.60 nmol/hour/mg protein

 

Beta-galactosidase: >0.28 nmol/hour/mg protein

 

Arylsulfatase B: >0.34 nmol/hour/mg protein

 

Beta-glucuronidase: >3.50 nmol/hour/mg protein

 

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 analysis), and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

Day(s) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Tuesday

Report Available

8 to 15 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MP9W MPS (Nine) Panel, WBC 104072-4

 

Result ID Test Result Name Result LOINC Value
BG759 Reason for Referral 42349-1
618439 Iduronate-2-sulfatase 24089-5
618440 Heparan-N-sulfatase 24086-1
618441 N-acetyl-alpha-D-glucosaminidase 24092-9
618442 Heparan-alpha-glucosaminide N-acetyltransferase 24044-0
618443 N-acetylglucosamine-6-sulfatase 24098-6
618444 N-acetylgalactosamine-6-sulfatase 24096-0
618445 Beta-galactosidase 24061-4
618446 Arylsulfatase B 24094-5
618447 Beta-glucuronidase 24065-5
618448 Interpretation 59462-2
618438 Reviewed By 18771-6