Medical Genetics Services

Medical Genetics was first founded in 1949 as the first Department of Medical Genetics in the United States. Our Medical Genetics Laboratory was established in 1961 and is one of the most established in the nation, providing you with the highest level of expertise for complex, high-demand genetic testing.

Some of the Genetic Lab services we offer include:

  • 1st and 2nd trimester screenings
  • Neural tube testing
  • Cancer AFP testing
  • Prenatal carrier screenings
  • Prenatal / Postnatal disease testing for cystic fibrosis
  • Fragile X
  • Next Generation Sequencing of exome variants including:
    •  Aortopathy Panel
    • Autosomal ASD/ID Panel
    • CFTR - Del/Dup | Full Gene Sequencing | CTFR/FMR1/SMN1 Carrier Screens
    • Ciliopathy Panel
    • Epilepsy Primary & Reflux Panels
    • Hypertrophic Cardiomyopathy Panel
    • MODY Panel
    • Monogenic Obesity Panel
    • Non-syndromic Hearing Loss Panel
    • Premature Ovarian Failure FMR1
    • Primary Ciliary Dyskinesis Panel
    • Spinal Muscular Atrophy Diagnostic SMN1 and SMN2
    • X-linked ASD/ID Panel
  • Cytogenomic Prenatal and Postnatal microarray analysis
  • Chromosome analysis for Prenatal, Postnatal, and Leukemia/Tumors
  • Molecular Cytogenetic testing for over 90 prenatal, postnatal genetic and leukemic disorders, including AML, CLL, CML, ALL, Multiple Myeloma, Bladder Cancer, and HER-2/neu Breast/Gastric Cancers

All testing is performed on site for optimal turnaround time, unless otherwise specified.

We are accredited by the Department of Health and Human Services Clinical Laboratory Amendments (CLIA #34D0665331) and the College of American Pathologists (CAP #1395705), and our laboratory directors are certified through the American Board of Medical Specialties by the American College of Medical Genetics.

Patrick Koty, PhD Patrick P. Koty, PhD, FACMG
Director, Molecular Genetics
Co-Director, Cytogenetic and Molecular Cytogenetic Laboratories
Co-Director Neural Tube Screening Program

Mark J. Pettenati, PhD Mark J. Pettenati, PhD, FACMG
Director, Cytogenetic and Molecular Cytogenetic Laboratory
Co-Director Neural Tube Screening Program

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Dmitry A Lyalin, PhD, FACMG
Co-Director, Molecular Genetics
Co-Director, Cytogenetic and Molecular Cytogenetic Laboratories