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genetic diagnosis

Cytogenetic tests analyse whole chromosomes
Gene tests analyze a single gene or short length of dna
Biochemical tests analyze proteins and their activity levels
Karyotyping is when a metaphase cell is dyed with geimsa stain and the chromosomes are organized. Used for Downs and Turner testing
Metacentric chromosomes 1,3,16
Subcentric chromosomes 2, 6, 10
Acrocentric 14, 15, 21
Materna afp HI, unconjugated estriol NORMAL, hcg Normal Neural tube defect
Maternal afp LO, unconjugated estriol LO, hcg LO Edwards
Maternal afp LO, uE3 LO, hcg HI Downs
Maternal afp LO, uE3 LO, hcg HI Molar pregnancy
Maternal afp HI, uE3 NORMAL, hcg HI multiple gestation
Created by: splashgreen