GENETICTS

Jeffrey Innis, M.D., Ph.D., medical director of the Michigan Medical Genetics Laboratories, discusses test results with a colleague.

All In The Family

Pediatric genetic testing helps diagnose a wide range of conditions

issue 2 | Fall 2012

The Michigan Medical Genetics Laboratories (MMGL), based in the University of Michigan's Department of Pediatrics, perform sophisticated biochemical and molecular genetics testing. Since genetic diseases affect a significant number of patients admitted to C.S. Mott Children's Hospital, the labs use state-of-the-art techniques to support the diagnosis and care of these patients.

"If a pediatrician has a patient with birth defects, developmental delay or autism, or a suspected genetic disorder, our laboratory offers a wide variety of genetic testing to address those problems," says Jeffrey Innis, M.D., Ph.D., medical director of the MMGL.

"For example, we offer comprehensive autism testing that includes chromosomal microarray analysis for microdeletions and microduplications. We are also developing test panels of genes covering a wide variety of disorders using exome DNA sequencing."

The MMGL can also test for:

  • Fragile X syndrome
  • Rett syndrome
  • PTEN macrocephaly autism
  • Other gene-specific tests for patients with autism
  • Biochemical genetic disorders (inborn errors of metabolism)

"Many community hospitals across the state send their genetic testing to labs that are outside of the state," says Innis, "However, I believe that we offer a better quality assay here at the University of Michigan. Physicians can get data about genome-wide coverage at over 300,000 separate positions in the genome for gene dosage abnormalities or chromosomal defects and can link with divisional medical geneticists and/or MMGL professional staff for help or advice."

Additionally, the University of Michigan offers supportive services to assist patients and their families. "Our stellar group of physician scientists are trained in medical genetics to help with the interpretation of this complex information," explains Innis. "We hold daily clinics here at UMHS, as well as frequent outreach clinics in Traverse City and Marquette. Families can meet with experts who can explain exactly what DNA test results mean for their children, now and in the future."