Laboratory for Molecular Medicine Tests

As collaborators, the Laboratory for Molecular Medicine (LMM) offers great depth of clinical knowledge to guide test selection and interpretation. We continually strive to translate genetic discoveries into clinical testing and improve the quality of genetic testing.

New tests and services

• Genomic Screening
• Provides genomic information for individuals over 18 years of age who are interested in learning more about their health, reproductive and/or pharmacogenomic risks
• Incorporate the power of genome sequencing with rigorous clinical interpretation of sequence information
• Diagnostic Genome Sequencing and Exome Sequencing

• Recommended for patients with a suspected genetic disorder in which traditional genetic testing has not yielded a result, or is unlikely to yield a result, despite a suspected genetic etiology
• Incorporate the power of genome or exome sequencing with rigorous clinical interpretation of sequence information

Expanded tests and services

• Expanded RASopathy Panel Noonan syndrome and related RASopathies
• This panel has been updated to include 23 genes, including ACTB, ACTG1, FGD1, KAT6B, LZTR1, MRAS, RRAS, and SOS2 creating the most comprehensive test to help confirm a diagnosis in these genetically and phenotypically overlapping syndromes
• OtoGenome Test™ for hearing loss and related syndromes

  • Now comprehensive panel of 110 genes known to cause nonsyndromic hearing loss, as well as syndromes that can present as nonsyndromic such as Usher, Pendred, Jervell and Lange-Nielsen (JLNS), and Branchio-Oto-Renal syndrome (BOR)

• Pan Cardiomyopathy Panel

  • Now being offered with 62 genes associated with cardiomyopathy. Disease specific sub-panels for HCM and DCM/Arrhythmogenic cardiomyopathy have expanded as well

• PulmoGene Panel for inherited pulmonary disorders

  • Expanded to a comprehensive panel of 64 genes that are associated with a variety of pulmonary phenotypes

• Copy Number Variant (CNV) Analysis

  • All next-generation sequencing gene panels have now been updated to include CNV analysis at no additional charge