Simple, reliable and accurate sizing of DMPK expansions up to 200 repeats – all within a single day

Published September 20, 2018 12:31 pm by James Briggs

AmplideX® technology has revolutionised how repeat expansions within the FMR1, C9orf72, and TOMM40 genes can be analysed, significantly expediting time-to-result and reducing the reliance on cumbersome Southern blot analysis.

The AmplideX® PCR/CE DMPK Kit extends this groundbreaking approach to the DMPK gene, which has long challenged laboratory analysis due to the presence of very large expansions (over 1000 repeats) and a high degree of mosaicism.

The AmplideX® DMPK kit, which is for use on widely established CE systems, overcomes these challenges and enables the sensitive detection and sizing of these DMPK repeats all within a single laboratory shift – without the need for Southern blot confirmation.

FAMILIAR WORKFLOW

SIMPLE WORKFLOW FOR DMPK REPEAT EXANSIONS

Shares a common workflow with existing AmplideX® products, like FMR1.

FAST TIME-TO-RESULT

Go from DNA to data in a single laboratory shift.

ACCESSIBLE

Runs on established platforms and eliminates need for Southern blot.

 faster than southern blot

 

SIMPLIFIED ANALYSIS OF THE DMPK GENE

SAMPLE TYPES

Blood, Buccal, CVS.

DNA INPUT

20-80ng DNA (in 2µl)

CE INSTRUMENTATION

Applied Biosystems 3130 / 3500 / 3730 Genetic Analyzers

 

RESOLVE ZYGOSITY AND DETECT MOSAICISM

CLEARLY DISCERN BETWEEN HOMO- AND HETEROZYGOUS ALLELES

 

discern between homo and heterozygous alleles

 

ACCURATELY SIZE EXPANSIONS UP TO 200 REPEATS

REDUCES THE NUMBER OF EXPANDED SAMPLES REQUIRING FURTHER RESOLUTION

 

dmpk expansions up to 200 repeats

 

ELIMINATES NEED FOR SOUTHERN BLOT

SIZE BEYOND 200 REPEATS WITH AGE WORKFLOW

 

reduced need for southern blog

optimised workflow for dmpk expansion

 

Find more information on the product page for AmplideX® PCR/CE DMPK Kit or download the product brochure. Contact VH Bio with any questions about this new product or to place an order with us. 



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