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Orderable Name 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)

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.

Day(s) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Tuesday

Report Available

8 to 15 days

CPT Code Information

82657