Trinucleotide repeat disorders are caused by aberrant expansions of triplet repeats of specific genes. The trinucleotide repeat expansion may be inherited and severity may increase with each successive generation. Traditionally, implementation of genetic screening programmes face constraints due to the high costs and labour-intensive workflow. TNR Diagnostics has developed kits to enable genetic screening with a more streamlined and cost-effective workflow.
Changing the Landscape for Genetic Testing
Fragile X Syndrome
Fragile X syndrome is the leading known cause of inheritable intellectual disabilities and autism, which is caused by mutations in the fragile X mental retardation 1 (FMR1) gene on the X-chromosome. TNR Diagnostics has developed the FastFraX™ kits which analyse the affected CGG repeat region in the FMR1 gene, thereby enabling more widespread identification, better characterisation, and greater understanding of the disease.
Myotonic Dystrophy Type 1
Myotonic Dystrophy type 1 (DM1) is the most common form of muscular dystrophy. Non-molecular testing methods face challenges in DM1 diagnosis due to overlapping symptoms with other neuromuscular disorders. Diagnosis of DM1 thus relies heavily on genetic testing. TNR Diagnostics has developed kits to detect and size CTG repeat expansions in the DMPK gene. Early diagnosis and symptoms management will greatly benefit affected patients.
Huntington’s Disease (HD) is a debilitating form of neurodegenerative disorder that results in loss of motor function, cognitive decline and psychiatric disturbances. HD usually occurs between 35 and 50 years of age, and progressively worsens over the course of 15 to 20 years. TNR Diagnostics is currently developing kits to detect and size the CAG repeat expansion in the HTT gene, thereby aiding clinicians in making diagnostic decisions.