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Test ID PDCRF Pompe Disease Cross-Reactive Immunological Material Status, Fibroblasts


Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin..

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Useful For

Determination of cross-reactive immunologic material status in patients with Pompe disease

 

Evaluating the best strategy for enzyme replacement therapy for patients with Pompe disease

Highlights

This test is used to determine cross-reactive immunological material (CRIM) status in patients with Pompe disease.

 

CRIM status is important when assessing whether immunosuppression is needed when initiating enzyme replacement therapy for patients with Pompe disease.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
FIBR Fibroblast Culture Yes Yes
CRYOB Cryopreserve for Biochem Studies No Yes

Testing Algorithm

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only one culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.

 

See Newborn Screen Follow-up for Pompe Disease In Special Instructions

Method Name

PDCRF: Western blot

CRYOB: Fibroblast Subculture followed by Cryopreservation and Storage

Reporting Name

Pompe Disease CRIM Status, Fibro

Specimen Type

Tissue

Specimen Stability Information

Specimen Type Temperature Time Special Container
Tissue Varies

Reference Values

An interpretive report will be provided

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. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

84182-Pompe CRIM

88233-Fibroblast culture

88240-Cryopreservation for biochemical studies

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PDCRF Pompe Disease CRIM Status, Fibro 99309-7

 

Result ID Test Result Name Result LOINC Value
606123 GAA CRIM status In Process
606124 Interpretation 59462-2
606125 Reviewed By 18771-6

NY State Approved

Yes

Day(s) Performed

Varies

Report Available

30 to 45 days