Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
The following are available in Special Instructions:
-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase
-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase and Psychosine
-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase
This test will not detect carrier status. For differentiating alterations from disease-causing variants in affected patients and for carrier detection in family members, molecular sequencing of the GALC gene is necessary. Order KRABZ / Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, PCR, Varies.
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 96 hours of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)
Specimen Volume: 6 mL
Collection Instructions: Send specimen in original tube. Do not transfer blood to other containers.
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2.Biochemical Genetics Patient Information (T602) in Special Instructions
Gross hemolysis | Reject |
Specimen Type | Temperature | Time | Special Container |
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Whole Blood ACD | Refrigerated (preferred) | 4 days | |
Ambient | 72 hours |