Genetic Syndromes
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Screening, Labs & Diagnostics
Diagnostic testing
Carrier testing
Newborn screening
Prenatal testing
Predictive and presymptomatic testing
Carrier testing
Newborn screening
Prenatal testing
Predictive and presymptomatic testing
Gene tests (individual genes or relatively short lengths of DNA or RNA are tested)
Chromosomal tests (whole chromosomes or very long lengths of DNA are tested)
Metabolic
Newborn Screening
Chromosomal tests (whole chromosomes or very long lengths of DNA are tested)
- Karyotype
- FISH analysis (fluorescent in situ hybridization)
Metabolic
Newborn Screening
- Baby's First Test: state-to-state guidelines for parents
General Position Papers
Genetic Testing for Developmental and Intellectual Disabilities (AHRQ, 2014)