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Test ID: PT11    
PTPN11, Full Gene Sequence, 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

Aiding in the diagnosis of PTPN11-associated Noonan syndrome and LEOPARD syndrome

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

This test aids in the diagnosis of PTPN11-associated Noonan syndrome and LEOPARD (lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and deafness) syndrome.

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 IDReporting NameAvailable SeparatelyAlways Performed
PT11SPTPN11, Full Gene SequenceNoYes
PT11QPTPN11, Full Gene SequencingNoYes

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, Full Gene Sequence, B

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

PTPN11
LEOPARD
SHP2
Cardiofaciocutaneous (CFC)
Multiple Lentigines
Noonan Syndrome (NS)