Genes
PTPN11

Disease:
Juvenile myelomonocytic leukemia, chronic myelomonocytic leukemia, myelodysplastic neoplasm, nonsyndromic acute myeloid leukemia, acute lymphocytic leukemia, acute myeloid leukemia, endometrial cancer, stomach cancer, lung adenocarcinoma,, melanoma, thyroid cancer, conventional glioblastoma multiforme, glioblastoma, colon adenocarcinoma, and Noonan Syndrome

Next generation sequencing of gene panel. The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia

Collection:
At least 0.5 ml EDTA, citrate (ACD) or Heparinized whole blood or bone marrow aspirates for DNA mutations

Stability:
96hours/4 to 7 days refrigerated

Unacceptable Conditions:
Specimen submitted is in the incorrect fixative or anticoagulant. Specimen received after the stability date. Gross hemolysis. Frozen specimen. Insufficient specimen. Unlabeled. Left un-refrigerated for an extended period.