Genetic Syndromes

• Down syndrome
• Fragile X (Martin-Bell syndrome, Marker X syndrome) 
• Rett Syndrome
• Rubinstein-Taybi syndrome
• Prader-Willi

• Klinefelter's Syndrome
• William's Syndrome
• Turner's Syndrome
• Tay-Sachs

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Screening, Labs & Diagnostics

Diagnostic 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)

• Karyotype
• FISH analysis (fluorescent in situ hybridization)

Biochemical tests (protein levels or enzyme activities are tested)
Metabolic
Newborn Screening

• Baby's First Test: state-to-state guidelines for parents

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General Position Papers

Genetic Testing for Developmental and Intellectual Disabilities (AHRQ, 2014)

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Articles

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Resources

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