Test ID: PT1K
PTPN11 Gene, Known Mutation, Blood
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
Genetic testing of individuals at risk for a known PTPN11
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.
Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| PT1KS | PTPN11 Gene, Known Mutation | No | Yes |
| PT1KQ | PTPN11, Known Mutation Sequencing | No | Yes |
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 Sequence Analysis
(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
PTPN11 Gene, Known Mutation, B
Aliases Lists additional common names for a test, as an aid in searching
PTPN11
Noonan
SHP2
NS
LEOPARD
Multiple lentigines
Cardiofaciocutaneous
CFC
Noonan
SHP2
NS
LEOPARD
Multiple lentigines
Cardiofaciocutaneous
CFC
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