Many rare diseases require genetic testing to obtain an accurate diagnosis of the rare disease and many rare disease can also have multiple mutations to further specify the condition (eg, cystic fibrosis, Duchenne muscular dystrophy). PreventionGenetics offers NextGen sequencing, Sanger sequencing and deletion/duplication testing via aCGH for over 1000 genes – many of which are for rare diseases.
In this exclusive interview the Rare Disease Report, Michael Chicka, PhD, Accounting Supervisor at PreventionGenetics talks about the company and lists a small sample of the rare diseases they test for.
For more information, visit www.preventiongenetics.com
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