Cytogenetic Testing at Johns Hopkins and Kennedy Krieger Institute

The Prenatal Cytogenetics Laboratory, in the Division of Molecular Pathology, at Johns Hopkins Hospital offers a variety of prenatal testing services including standard chromosome analysis and fluorescent in situ hybridization. FISH Specimens accepted for cytogenetic analysis include amniotic fluid, chorionic villi, products of conception and blood. Work is referred through the physicians and counselors of the The Prenatal Diagnostic Center at The Johns Hopkins Hospital and others within the The Johns Hopkins Health System. This laboratory utilizes state-of-the-art cytogenetic technology including an automated karyotyping and metaphase finding automated, scanning-to-capture system. The laboratory is directed by Cheryl DeScipio, PhD, a board certified clinical cytogeneticist.

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The Johns Hopkins Hospital
Molecular Pathology Prenatal Cytogenetics
Laboratory Team

Photo L to R
Danial Saul
Patricia Long
Cheryl DeScipio, PhD (Director)
Marie Kobayashi
Christl Wigner

Cytogenetics Laboratory, Kennedy Krieger Institute

Postnatal cytogenetic analysis on peripheral blood cells and fibroblasts is an important tool to diagnose individuals with developmental delay with or without dysmorphic features. The postnatal cytogenetic laboratory is directed by Denise Batista, PhD. Her clinical research focuses on cytogenetics, including classical techniques, SNP array and fluorescence in situ hybridization, to identify new microdeletion and microduplication syndromes. Once detected in several individuals we can delineate the phenotypic spectrum associated with the chromosome abnormality.The use of microarray allows a correlation at the molecular level where candidate genes associated with the phenotype can be recognized. The direct application of this research is increased number of clinical diagnosis achieved and availability of better prognostic information to individuals and families carrying these genetic syndromes.The The Cytogenetics and Microarray Laboratory at Kennedy Krieger Institute is directed by Denise Batista, PhD.
 

The Cytogenetics and Microarray Laboratory at Kennedy Krieger Institute

Top row from Left to Right: Shirley Johns, Barbara Jackson, Carol Miller, Elizabeth Wohler, Denise Batista (Director), Janet Biscoe, Linjie Wo, Stacey Drumwright; Bottom row left to right: Ramya Nadella, Susan Morsey, Natalie Escola, Victoria Stinnett, Alvina Velasco, Theresa Holland