A New Entry into the World of Genes for Pontocerebellar Hypoplasia

Maria*, a very sick little girl from Puerto Rico, was admitted to the Boston Children’s Hospital (BCH) with extreme failure to thrive.  She had a history of severe developmental delays and microcephaly after spasticity and arthrogryposis were identified at birth.  In addition to the known microcephaly, a brain MRI revealed a much smaller than expected cerebellum, as well as very small mid and hind brain structures, consistent with a diagnosis of pontocerebellar hypoplasia (PCH).  While undergoing an extensive clinical workup at BCH, the family expressed interest

Where are they Now? Eden Haverfield, Ph.D.

The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics. The training programs have a wide range of clinical and research activities including orphan disease diagnostics, genotype-phenotype correlation studies, cancer genetics, translation of new gene discoveries for diagnostic purposes, technology development, centromere delineation, chromosome structure and function studies, and phenotype/karyotype studies.

Coding Corner - the New 2013 Molecular CPT codes

According to the American Medical Association, the New 2013 Molecular CPT Codes will go into effect January 1, 2013.  These new codes will replace the old system for coding molecular pathology procedures known as “stacking codes” (83890 – 83914), which focus on methodology rather than specific analytes.  We are currently in the process of mapping our old codes to the New 2013 Molecular CPT codes and will make this information available to all clients through our website in the near future.

Upcoming conferences

Come visit us in the exhibitor hall at the following upcoming conferences:

NSGC 31st Annual Education Conference in Boston Massachusetts

October 24 - 27, Hynes Convention Center, Booth 405

62nd Annual Meeting of the American Society of Human Genetics in San Francisco, California

November 6 - 10, Moscone Center, Booth 409

The University of Chicago Genetic Services Announces Expanded Testing for Cornelia de Lange syndrome (now including SMC3, RAD21 and HDAC8)

The University of Chicago Genetic Services is a leader in providing clinical genetic testing for Cornelia de Lange syndrome (CdLS). Working closely with both key researchers in the CdLS field and the Cornelia de Lange Syndrome Foundation (a leading family support organization), UCGS has been providing clinical genetic testing for CdLS for over six years. Our depth of knowledge and experience with this condition is unparalleled.

Principles and Informatic Infrastructure for Implementing Diagnostic Next-Generation Sequencing for Genetically Heterogeneous Conditions

This poster (#1737W) will be presented at the 62nd Annual Meeting of the American Society of Human Genetics by Scott Topper, assistant director of UCGS, Wednesday November 7: 2:15pm-3:15pm.  Stop by and learn more