Myotonic Dystrophy 1 (DM1) is an autosomal recessive disorder caused by the expansion of a CTG trinucleotide repeat in the noncoding region of the DMPK gene. The GT MD1 Detector kit is designed to easily amplify a 152 pb region on the DMPK gene (though the actual size depends on the number of CTG repeat). Fragment size indicates the severity of the disease. An individual with 37 CTG repeats is regarded normal; 37-49 are premutation; 50-150 are symptomatic, and more than 150 are severely affected. Therefore, allele determination is significant for clinicians and genetic counsellors to take appropriate actions and guide families accordingly.

GT MD1 Detector is simple to use, and PCR product must be fragment analyzed on one of the 3130/xl or 3500/xL Genetic Analyzer from Thermo Fisher Inc. The kit has a unique panel for analysis and determining the repeat number.

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Genetek has developed GT MD1 Detector kit to accurately determine the number of CTG repeat in normal and affected DNA samples. The kit enables the user to determine the number of repetitions for carrier screening and confirming affected cases. Unique gradient colored panel will help the user to visualize the result even before allele numbering.

Premium Features

• For rapid and accurate detection of CTG repeat numbers in Myotonic Dystrophy 1 (DM1);
• Easy to interpret results by having special panel showing repeat range;
• Applicable to a variety of DNA sources including our DNA extraction free materials like blood on filter paper like GT DBC, GT DBC Blue, GT BLB;
• Easy to use mix and rapid PCR to result.

For research use only. Not for use in diagnostic procedures.

Markers

The panel below shows repeat sizes and severity of the disease. Colors indicate normal (green) to severe disease (dark red) with easy formular for calculating number of repeats.

Repeat Number Interpretation

Compatibility​

This kit is compatible with 5 dye system of capillary electrophoresis such as with ABI 3130/xl, 3500/xL , and Seq Studio Genetic Analyzers with either 30, 50, or 80 capillaries.

This kit can be used on various sources of DNA including DNA extracted from various sources or DNA obtained using any of extraction free (direct) materials from Genetek such as GT AFLB (Amniotic Fluid Lysis Buffer), GT CVLB (Chorionic Villus Lysis Buffer, GT BLB (Blood Lysis Buffer), and filter papers (GT DBC or GT DBC Blue).

Kit Content

The kit contains all the necessary reagents and buffers for multiplex PCR (Multiplex Primer mix, PCR buffer, GT HSTaq DNA Pol in Box A). Also, the kit comes with GTE600 size standard as well as GTM5 Matrix Standard for calibrating the Genetic Analyzer (Box B).