Noonan spectrum disorder NGS panel

The Noonan spectrum disorders are a clinically overlapping group of developmental disorders caused by mutations in genes involved in the RAS-MAPK signaling pathway (RASopathies).  Clinical features of these disorders include short stature, cardiovascular defects, developmental delays, characteristic facial features, cutaneous findings, and an increased risk for specific types of cancer.  The disorders included on this panel are Noonan syndrome, LEOPARD syndrome, Cardio-facial-cutaneous syndrome, Costello syndrome, Noonan-like syndrome with loose anagen hair, NF1 related Noonan syndrome, Noonan-like syndrome with or without juvenile myelomonocytic leukemia, and Legius syndrome. Other RASopathies or phenotype-related diseases, such as hereditary gingival neurofibromatosis, neurofibromatosis 2, and Baraitser-Winter syndrome, are also included in this panel. All of these disorders are reported to be inherited in an autosomal dominant manner, although most cases are caused by de novo mutations.

The Noonan spectrum disorder NGS panel consists of twenty-five genes: A2ML1, ACTB, ACTG1, BRAF, CABIN1, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS,  NSUN2, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2 and SPRED1.

Copy number variation (CNV) analysis of the Noonan spectrum disorders genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.

Noonan spectrum disorder NGS panel