Pompe Disease Enzyme Analysis

TEST: 451830
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CPT: 82657
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Special Instructions

Whole blood must be spotted on the filter paper card prior to sending sample. Allow filter paper to dry thoroughly before placing in zip lock bag for shipment.

Expected Turnaround Time

6 - 8 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Blood spot

Volume

2 - 3 mL (unhemolyzed)

Collection

Dried blood spot collected from a finger stick or from whole blood collected in a lavender-top (EDTA) tube spotted onto Integrated Genetics-supplied and validated filter paper card. Fill 6 circles completely with blood.

Storage Instructions

Refrigerate after collection. Transport to the testing laboratory using cool packs. Do not allow the sample to freeze. Time-sensitive; specimens must be received within four days of collection; please collect/ship Monday-Thursday only.

Test Details

Methodology

Determination of enzymatic activity with 4-methylumbelliferyl-?-D-galactopyranoside

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
451830 Pompe Disease Enzyme Analysis 55827-0 451989 Sample Type 31208-2
451830 Pompe Disease Enzyme Analysis 55827-0 451990 Acid Alpha-glucosidase (pH3.8) 55827-0
451830 Pompe Disease Enzyme Analysis 55827-0 451992 Neutral Glucosidase (pH7.0) N/A
451830 Pompe Disease Enzyme Analysis 55827-0 451991 pH7.0/pH3.8 Ratio N/A
451830 Pompe Disease Enzyme Analysis 55827-0 451121 Interpretation 51968-6
451830 Pompe Disease Enzyme Analysis 55827-0 450185 Comments 8251-1
451830 Pompe Disease Enzyme Analysis 55827-0 451122 Director 72486-4
451830 Pompe Disease Enzyme Analysis 55827-0 451993 Disclaimer 62364-5
451830 Pompe Disease Enzyme Analysis 55827-0 450187 Pompe Disease Enzyme PDF 51969-4

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The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf