Page 140 - PCC11

MOLECULAR GENETIC TESTS
TO DETECT FEMALE INFERTILITY (POI): FMR1 REPEAT EXPANSION
▶ FMR1 premutation: repeat expansion >32 CGG repeats
▶ 54-200CGGrepeats:POI(5%sporadic-15%familial) ▶ >200CGGrepeats:FragileX-syndrome
MOLECULARGENETICTESTS: INFERTILITYGENES
TO DETECT MALE/ FEMALE I NFERTI LI TY
High resolution
Locus-specific
High resolution
Targeted genome-wide
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The ABC of next generation sequencing-based genetic diagnostics in fertility
8-6-2018 | 15
High resolution
Genome-wide
Wild-type Mutant
Gene
Sanger sequencing
Gene panel >> Genome
Next generation sequencing
The ABC of next generation sequencing-based genetic diagnostics in fertility
8-6-2018 | 16
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