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University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory

Disorder Genes Test Method Lab Info Product code  
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory 22q11.2 Deletion Syndrome FISH-metaphase
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory 46,XX Testicular Disorder of Sex Development SRY, FISH-metaphase
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory Acid Sphingomyelinase Deficiency SMPD1, Targeted mutation analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory Angelman Syndrome UBE3A, FISH-metaphase
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory Angelman Syndrome UBE3A, Methylation analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory Angelman Syndrome UBE3A, Uniparental disomy study (UPD)
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory Ashkenazi Jewish Carrier Multi-Gene Panels
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory Bloom's Syndrome BLM, Targeted mutation analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory Canavan Disease ASPA, Targeted mutation analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory Cancer: Lynch Syndrome (Hereditary Non-Polyposis Colon Cancer) Multi-Gene Panels
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory CFTR-Related Disorders CFTR, Sequence analysis of the entire coding region
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory CFTR-Related Disorders CFTR, Targeted mutation analysis
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