Genetic Testing

Genetic testing is essential for the definitive diagnosis of TK2d and other mitochondrial diseases1,2

Many neuromuscular genetic panels are not inclusive of genes that cause mitochondrial disease. If you suspect a mitochondrial disease and order a genetic test, ensure it includes TK2 and other mitochondrial genes.2-4

If you ordered genetic tests for patients in the past that did not include these genes and results were negative or inconclusive, you may need to reanalyse the original sample or retest.2-5

Gene testing icon

Whole-exome sequencing/whole-genome sequencing (next-generation sequencing [NGS]) is the preferred method to establish a genetic diagnosis9

Whole-exome sequencing/whole-genome sequencing, also known as NGS, is widely available and becoming more affordable.

Whole-exome sequencing/whole-genome sequencing is comprehensive and capable of detecting both:

  • Nuclear mutations

  • Mitochondrial mutation

Panel test icon

Multigene panel (NGS) is a genetic testing panel inclusive of many genes associated with the disease phenotype1-3,5-8

The genes included in a multigene panel may vary by lab. If you suspect TK2d or another specific disease, make sure the TK2 gene is on the panel.

Gaps in knowledge about genetic testing can lead to a misdiagnosis3

  • A narrow genetic panel can lead to a negative result3

  • Panels should be updated to the latest pathogenic variants10

  • Gene testing can include a combination of gene-targeted testing and comprehensive genomic testing2,3

Genetic testing options inclusive of TK2d2-4

  • The TK2 gene is not on all of the commonly used genetic testing panels for diseases that mimic TK2d, so if TK2d is part of the differential diagnosis, it is important to confirm gene coverage before ordering a panel. It’s also important to check availability of genetic tests, as they may not be available in every location.

  • Visit the NIH Genetic Testing Registry to find additional options inclusive of the TK2 gene.

 

Consult with a geneticist if you suspect that a patient has TK2d

Recognition and early diagnosis of TK2d are important as new therapies have become available.8

Visit the NIH Genetic Testing Registry to find additional options inclusive of the TK2 gene.

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