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Test ID: KRABZ    
Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Second-tier test for confirming a diagnosis of Krabbe disease

 

Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Testing includes full gene sequencing of the GALC gene.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

If a skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be added at an additional charge.

 

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 Screen Follow-up for Krabbe Disease: Galactocerebrosidase, Psychosine, and GALC 30kb Deletion

-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) followed by DNA Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Krabbe Disease, Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

B-Galactosidase Galactosylceramide, Leukocytes
Beta-Galactosidase Galactosylceramide, Leukocytes
Cerebroside B-Galactosidase, WBC
Cerebroside Beta-Galactosidase(WBC)
Galactocerebrosidase
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency
Galactosylceramide
GALC Deficiency
Globoid Cell Leukodystrophy
Krabbe Disease
Krabbe's Disease
GALCS