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The Myotonic Dystrophy Type 1 PCR Kit provides laboratories with a validated solution for the molecular diagnosis of DM1. Designed for professional use in clinical and research settings, this CE-IVD certified kit ensures high sensitivity and specificity in detecting CTG repeat expansions within the DMPK gene.
The kit combines standard PCR with triplet repeat-primed PCR (TP-PCR), enabling the reliable detection of both moderate and large expansions, which are often missed by conventional PCR alone. With optimized reagents, internal controls, and a streamlined workflow, it guarantees reproducible results across different laboratories.
Intended for molecular diagnostics professionals, this kit supports accurate clinical decision-making, enhances diagnostic efficiency, and contributes to improved patient management in neuromuscular disorders.
This kit includes all essential reagents for the detection of CTG repeat expansions in the DMPK gene. Reagents such as PCR Master Mix, TP-PCR Master Mix, DNA polymerase, and a validated positive control are provided to ensure accuracy. With sufficient material for 12 determinations, it meets the daily needs of diagnostic laboratories.
Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats at the 3′ end of the DMPK gene. Normal alleles typically contain 5–34 repeats, while expanded alleles exceeding 150 repeats are pathogenic, leading to progressive muscular weakness, cardiac involvement, cataracts, and other systemic symptoms. Detecting these expansions accurately is crucial for diagnosis and genetic counseling.
The Imegen® Myotonic Dystrophy Type 1 PCR Kit is manufactured by Health in Code, S.L., a leader in molecular diagnostics. The kit has been validated with EMQN reference materials and Coriell Institute samples, ensuring reliability across diverse clinical laboratories. By combining conventional PCR with TP-PCR, it covers a broad spectrum of expansions, reducing false negatives.
The diagnostic principle relies on PCR amplification followed by capillary electrophoresis. Two reaction mixes are prepared per sample: one for conventional PCR and another for TP-PCR. The TP-PCR system enables detection of expanded alleles that standard PCR cannot reveal. Amplified fragments are analyzed with fluorescent labeling, providing clear, reproducible peak profiles. The workflow is compatible with widely used thermal cyclers and sequencers, such as the Thermo Fisher 3730xl DNA Analyzer.
Accurate detection of DMPK expansions plays a central role in diagnosing myotonic dystrophy type 1. This kit supports:
Primary diagnosis in symptomatic patients
Carrier testing in families with known mutations
Prenatal and predictive testing under professional guidance
Research applications in neuromuscular genetics
By providing a reliable molecular tool, the Myotonic Dystrophy Type 1 PCR Kit assists clinicians in guiding patient management, family counseling, and long-term care planning.
DM1 Master Mix, Taq: Conventional PCR enzyme, PCR Master Mix, TP-PCR Master Mix and Positive control for DM1 alleles
Instructions for Use
Myotonic Dystrophy PCR Kit
For any missing information or if you require additional details, please do not hesitate to contact us.