Test ID: SEPTK
SEPT9 Gene, Known Mutation
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
Diagnostic or predictive testing for hereditary neuralgic amyotrophy when a SEPT9 mutation has been identified in an affected family member
Genetics Test Information
Provides information that may help with selection of the correct test or proper submission of the test request
Documentation of the specific familial mutation must be provided with the specimen in order to perform this test.
Testing Algorithm
Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
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
Polymerase chain reaction (PCR) followed by DNA sequencing and/or gene dosage analysis by multiplex ligation-dependent probe amplification (MLPA) of SEPT9 genes is utilized to test for the presence of mutations previously identified in an affected family member.
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name
A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
SEPT9 Gene, Known Mutation
Aliases
Lists additional common names for a test, as an aid in searching
SEPT9
HNA
Familial Brachial Plexus Neuritis
Hereditary Neuralgic Amyotrophy
Heredofamilial Neuritis with Brachial Plexus Predilection
HNA
Familial Brachial Plexus Neuritis
Hereditary Neuralgic Amyotrophy
Heredofamilial Neuritis with Brachial Plexus Predilection


