Case Study: Bioma Genetics Laboratory helps a patient find answers after decades of uncertainty with SOPHiA GENETICS

Bioma Genetics Laboratory finds answers after 44 years with SOPHiA GENETICS

Bioma Genetics Laboratory, a genetics lab in Brazil, faced the challenge of diagnosing a patient with a lifetime of unexplained and complex symptoms, including fragile bones and infertility. To find answers, they turned to SOPHiA GENETICS and utilized the SOPHiA DDM™ Whole Exome Solution v2 for advanced genomic analysis.

The solution implemented by SOPHiA GENETICS enabled the lab to identify two pathogenic mutations, confirming a diagnosis of Ehlers-Danlos syndrome. This result provided the patient with a life-changing explanation for her condition, ending decades of uncertainty and empowering her to connect with a support community and pursue personalized care. The case underscores the transformative impact of the genomic insight provided by SOPHiA GENETICS.

Bioma Genetics Laboratory