Test Details
Methodology
Determination of enzymatic activity with 4-methylumbelliferyl-?-D-galactopyranoside
Result 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.
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.
Specimen Requirements
Specimen
Blood spot
Volume
2 - 3 mL (unhemolyzed)
Collection Instructions
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.
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 | |
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 451989 | |||||
| Result Code Name | Sample Type | |||||
| UofM | ||||||
| Result LOINC | 31208-2 | |||||
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 451990 | |||||
| Result Code Name | Acid Alpha-glucosidase (pH3.8) | |||||
| UofM | ||||||
| Result LOINC | 55827-0 | |||||
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 451992 | |||||
| Result Code Name | Neutral Glucosidase (pH7.0) | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 451991 | |||||
| Result Code Name | pH7.0/pH3.8 Ratio | |||||
| UofM | ||||||
| Result LOINC | N/A | |||||
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 451121 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 51968-6 | |||||
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 450185 | |||||
| Result Code Name | Comments | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 451122 | |||||
| Result Code Name | Director | |||||
| UofM | ||||||
| Result LOINC | 72486-4 | |||||
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 451993 | |||||
| Result Code Name | Disclaimer | |||||
| UofM | ||||||
| Result LOINC | 62364-5 | |||||
| Order Code | 451830 | |||||
| Order Code Name | Pompe Disease Enzyme Analysis | |||||
| Order Loinc | 55827-0 | |||||
| Result Code | 450187 | |||||
| Result Code Name | Pompe Disease Enzyme PDF | |||||
| UofM | ||||||
| Result LOINC | 51969-4 |