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Test ID MSDW Multiple Sulfatase Deficiency, Leukocytes


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. Biochemical Genetics Patient Information (T602)

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

Useful For

Supporting the biochemical diagnosis of multiple sulfatase deficiency in whole blood specimens

 

This test is not useful for carrier detection.

Method Name

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

Reporting Name

Multiple sulfatase deficiency, 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

Reference Values

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

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

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

N-acetylgalactosamine-6-sulfatase: >1.60 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

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
MSDW Multiple sulfatase deficiency, WBC 104073-2

 

Result ID Test Result Name Result LOINC Value
BG771 Reason for Referral 42349-1
618466 Iduronate-2-sulfatase 24089-5
618467 Heparan-N-sulfatase 24086-1
620156 N-acetylglucosamine-6-sulfatase 24098-6
618468 N-acetylgalactosamine-6-sulfatase 24096-0
618469 Interpretation 59462-2
618465 Reviewed By 18771-6