2012 has been a very exciting year for our laboratory with the launching of our first series of next generation sequencing (NGS)-based tests.  While the power of this technology is now well established, it has been very satisfying to experience it first hand and to see how it is changing what we can do in the diagnostic laboratory.  With the applications of NGS unraveling all around us at a dizzying pace it has been difficult not to get caught up in it all.

After months of consideration, the Center for Medicare & Medicaid Services (CMS) announced that the new 2013 Molecular Pathology CPT Codes (MPCC) will be paid under the Clinical Laboratory Fee Schedule (CLFS) using the gap-fill method.

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.

The University of Chicago Genetic Services will be closed on Tuesday, December 25th for Christmas and will not be able to receive samples that day.  We will be open to receive samples on Monday, December 24th

The lab will also be closed on Tuesday, January 1st and will not be able to receive samples that day.  We will be open to receive samples on Monday, December 31st and Wednesday, January 2nd

As of December 1st, 2012, UCGS will be offering several new tests:

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Lissencephaly.

As of December 1st, 2012, UCGS will be offering several new tests:

The University of Chicago Genetic Services Introduces additional Exonic Deletion/Duplication analysis by oligonucleotide array-CGH.

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

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.

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.

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