Dante Labs has been collaborating with the Facebook Group Periodic Paralysis Genetics Resources to offer Whole Genome Sequencing to its members at especially convenient price.
The results have been useful for both diagnosis and treatment. Elsa's story shows how to act on genetic results to improve daily life even when suffering from a severe condition such as periodic paralysis.
Born and raised in Sweden, Elsa had been suffering from severe leg pain for several years. The traditional medical approach had been a series of trials and errors. Then Elsa ordered a Whole Genome Sequencing from Dante Labs. Compared to traditional target panels, the Whole Genome Sequencing analyzes the entire DNA, hence looking for variants in any gene and even in non-coding regions.
Dante Labs identified a pathogenic variant in Elsa's DNA in the AMPD1 gene.
Empowered with this information and collaborating with her physician, Elsa is finally able to take a precise treatment for her specific variant.
Her severe leg pain is finally decreased "because I know what to do now." - in her own words.
(*) Elsa's name has been changed to protect her privacy.