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Catalog ID PSYR Psychosine, Whole Blood


Ordering Guidance


This test is recommended for individuals of all ages, infancy through adulthood, for diagnosis or long-term monitoring of patients who have been treated or who are at risk of developing Krabbe disease.

 

If a result is needed within 24 hours, order PSY / Psychosine, Blood Spot.



Shipping Instructions


Must be sent refrigerated.



Necessary Information


1. Patient’s age is required.

2. Date of hematopoietic stem cell transplantation (HSCT), if performed.



Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin, lithium heparin)

Specimen Volume: 2 mL


Secondary ID

606145

Useful For

Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens

 

Follow-up of individuals affected with Krabbe disease

 

Follow-up testing after an abnormal newborn screening result for Krabbe disease

 

Monitoring of individuals at risk to develop late onset Krabbe disease

 

Monitoring of individuals with Krabbe disease after hematopoietic stem cell transplantation

Method Name

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

Reporting Name

Psychosine, RBC

Specimen Type

Whole blood

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated 7 days

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

Normal <5 pmol/g Hb

Day(s) Performed

Tuesday, Thursday

Report Available

3 to 7 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

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PSYR Psychosine, RBC 93687-2

 

Result ID Test Result Name Result LOINC Value
606152 Interpretation (PSYR) 59462-2
606145 Psychosine, RBC 93687-2
606151 Reviewed By 18771-6

Testing Algorithm

If the patient has abnormal newborn screening result for Krabbe disease, immediate action should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1,2)