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Test ID: C9OR    
C9orf72 Hexanucleotide Repeat, Molecular Analysis

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

Conditional

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

Molecular confirmation of clinically suspected cases of c9frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS), FTD, or ALS

 

Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion in the C9orf72 gene

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
C9OFUC9orf72, Follow Up AnalysisNoNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered follow-up analysis testing will be performed and charged dependent upon on the GGGGCC hexanucleotide repeat alleles of the C9ORF72 gene found by PCR analysis.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

C9OR-Polymerase Chain Reaction (PCR)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

C9OFU-Southern Blot

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

C9orf72, Molecular Analysis

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

c9FTD/ALS
Hexanucleotide repeat expansion
ALS
FTD