Triplet Repeat Diagnostic Techniques: Part 2 - Triplet-Primed PCR

1. The following electropherogram reveals that the patient is:
Male premutation
Female expansion carrier
Normal heterozygous female
Affected male
Affected female
2. Next generation sequencing (NGS) is not typically offered for FMR1 testing. Which of the following best explains why NGS is not used?
NGS cannot sequence any repetitive regions.
NGS relies on PCR for library prep.
Southern blots are used for the clinical testing of most single genes in diagnostic labs.
Next generation sequencing cannot detect methylation
True or False: Different repeat expansion disorders carry expansions in different regions of the gene.
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