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Test Code PSY Psychosine, Blood Spot


Ordering Guidance


This test is recommended for newborns or infants who have not had previous psychosine testing. This test is not intended to be used as a monitoring test for individuals with Krabbe disease who are treated or for children or adults at risk of developing Krabbe disease. For patients older than infancy, order PSYR / Psychosine, Whole Blood.



Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Card-Blood Spot Collection (Filter Paper)

Acceptable: PerkinElmer 226 filter paper, Munktell filter paper, Whatman protein Saver 903 paper, local newborn screening card, or blood collected in tubes containing EDTA (preferred) or heparin and dried on filter paper

Specimen Volume: 2 Blood spots

Collection Instructions:

1. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

2. Let blood dry on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)


Forms

1. Biochemical Genetics Patient Information (T602)

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

Useful For

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency

 

Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease

 

This test is not capable of identifying carriers of Krabbe disease.

 

This test is not intended for long-term monitoring of individuals being treated for Krabbe disease or for older children or adult patients at risk to develop Krabbe disease.

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)

 

The following are available:

-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase

-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase and Psychosine

 

Method Name

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

Reporting Name

Psychosine, BS

Specimen Type

Whole blood

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 96 days FILTER PAPER
  Frozen  96 days FILTER PAPER
  Refrigerated  96 days FILTER PAPER

Reference Values

Normal <2 nmol/L

Day(s) Performed

Monday through Sunday

Report Available

1 to 2 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
PSY Psychosine, BS 93688-0

 

Result ID Test Result Name Result LOINC Value
62235 Psychosine 93688-0
36342 Reviewed By 18771-6
36343 Interpretation (PSY) 59462-2