Molecular Genetics Tests Flashcards
Which test is used for fragile X syndrome?
PCR/Fragment analysis
What is a test looking for in Fragile X?
CGG repeat expansion in the 5’ UTR of the FMR1 gene
Which test is used for spinal muscular atrophy?
Copy number analysis (MLPA)
What is a test looking for in SMA?
Homozygous deletion of the SMN1 gene, including at least exon 7
Which test is used for Huntington Disease?
PCR/Fragment analysis
What is a test looking for in HD?
CAG repeat expansion in exon 1 of HTT gene
Which test is used for myotonic dystrophy type 1?
PCR/Fragment analysis
What is a test looking for in DM1?
CTG repeat expansion in the DMPK gene
Which test is used for prader-willi/angelman syndrome?
Methylation study
What is a test looking for in PWS/AS?
abnormal methylation pattern in critical region 15q11-q13
Which test is used for y-chromosome deletion (Y-del)?
PCR/Fragment analysis
What is a test looking for in y-chromosome deletion (Y-del)?
deletions in regions of the Y chromosome called azoospermia factor (AZF) A, B, or C
What do microsatellite markers look for?
uniparental disomy (UPD) and maternal cell contamination (MCC)
Which test is used for beckwith-wiedemann/Russell Silver syndrome (BWS/RSS)?
Copy number and methylation study (MS-MLPA)
Adapter ligation-based library construction
shear or enzymatically treat high molecular weight DNA to fragment OR derive fragments from other preparatory methods