KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, PCR

Test Catalog

Test Name

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

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 mutations 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
CULFBFibroblast Culture for Genetic TestYesNo

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

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

 

See Newborn Screen Follow-up for Infantile Krabbe Disease in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase in Special Instructions.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

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

Yes

Reporting Name A shorter or abbreviated version of the Published Name for a test; an abbreviated test name

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