Key Features and Values
- Significantly expedites time-to-result
- Reduces reliance upon cumbersome Southern blot analysis
- Enables the sensitive detection and sizing of DMPK repeats, all within a single laboratory shift – without the need for Southern blot confirmation.
The AmplideX DM1 Dx Kit is an in vitro nucleic acid amplification kit for the analytical assessment of CTG repeats in the 3’ untranslated region of the DMPK gene to aid in the diagnosis of myotonic dystrophy type 1 (DM1).
The kit employs polymerase chain reaction (PCR) on extracted deoxyribonucleic acid (DNA) followed by capillary electrophoresis. The kit generates numerical values for alleles up to and including 200 repeats and a categorical value for alleles > 200 repeats to facilitate genotyping.
For size estimation beyond 200 repeats, the kit provides instructions to perform an optional PCR followed by agarose gel electrophoresis (AGE) for assessment purposes only.
The AmplideX DM1 Dx Kit can be used to amplify the DMPK trinucleotide CTG fragment from purified genomic DNA (gDNA). Amplified products are resolved by capillary electrophoresis (CE). Specimens flagged with > 200 repeats can optionally be assayed by agarose gel electrophoresis (AGE). Amplicon sizes determined during CE are converted to repeat lengths manually or by using the AmplideX PCR/CE DMPK Macro. The AmplideX PCR/CE DMPK Macro can determine size and mobility correction factors from batch run calibrators automatically or can use default values. Manual AGE size conversion relies on comparison to a DNA ladder with known fragment sizes.