C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis

Test Catalog

Test Name

Test ID: C9ORF    
C9orf72 Hexanucleotide Repeat, Molecular Analysis

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

Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS)


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

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


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)

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


Reporting Name A shorter or 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

Hexanucleotide repeat expansion
G4C2 Expansion