Disorders

Noonan-Like Syndrome Disorder with or without Juvenile Myelomonocytic Leukemia

Synonym(s): CBL Mutation-Associated Syndrome, CBL Syndrome, NSLL

Gene	Locus	Protein
CBL	11q23.3-qter	E3 ubiquitin-protein ligase CBL

Laboratory	Test Method	Prenatal	Carrier *
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA	• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA	• Sequence analysis of the entire coding region
InVitae Corporation - San Francisco, CA, USA	• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.