Aiding in the diagnosis of Noonan syndrome and related phenotypes such as LEOPARD syndrome
This test involves simultaneous sequence analysis of the 4 genes most commonly involved in Noonan syndrome. This test is more cost effective than ordering each of the 4 genes individually. Please call 800-533-1710 and ask to speak to the genetic counselor if you have questions about testing strategy for Noonan syndrome.
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Noonan Spectrum Sequence Panel 1, B
Costello Syndrome (CS)
LEOPARD Syndrome (LS)
Noonan Syndrome (NS)