Disorders

Macrocephaly/Autism Syndrome

Synonym(s): Autism with Macrocephaly

Gene	Locus	Protein
PTEN	10q23	Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN

Laboratory	Test Method	Prenatal	Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Center for Human Genetics, Inc - Cambridge, MA, USA
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA
diagenos - Osnabrueck, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA

^* 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.