The Michigan Medical Genetics Laboratories (MMGL) is a comprehensive clinical genetics testing laboratory based in the University of Michigan's Department of Pediatrics whose goals are to provide state of the art testing and cutting edge Research and Development for genetic diseases. There are two separate MMGL sections: Biochemical Genetics and Molecular Genetics.
The Biochemical Genetics Laboratory identifies and quantifies analytes for the diagnosis and management of patients with inborn errors of metabolism and for patients identified with abnormal newborn screens. The lab uses state of the art HPLC (Biochrom) to quantify amino acids in plasma, CSF and urine, and GC/MS (Agilent 5975B) to identify the TMS derivatives of urinary organic acids. Clinical consultation is available for explanation of results and assistance with further evaluation.
The Molecular Genetics Laboratory develops, validates, and performs clinical assays for genetic diseases that are caused by changes in one or more genes by DNA sequencing, SNP chromosomal microarrays, relative-quantitative PCR, methylation analysis, MLPA, mutation screening panels (xTAG, Luminex), and SNP testing. Research and Development is currently underway for comprehensive diagnostic gene panels using next-generation sequencing technology to expand testing capabilities for known genetic conditions and to enhance efforts in personalized genomic medicine.
Specimens submitted to The Michigan Medical Genetics Laboratories must be properly labeled and accompanied by a MMGL Molecular Genetics Requisition. Please refer to the MLabs Test Catalog for available assays and specimen collection requirements.
The MMGL Genetics Laboratory offers the following testing: