Taking advantage of affordable genetic testing for FA
Susan Perlman, MD, shares why she thinks financial burdens should not be insurmountable obstacles to obtaining genetic testing when diagnosing Friedreich’s ataxia.
About Susan Perlman, MD
Susan Perlman, MD, is a clinical professor of neurology and the director of the Ataxia Center at the UCLA Medical Center in Los Angeles. Her specialty is ataxias, including Friedreich’s ataxia. She is also the director of clinical trials in UCLA’s Program in Neurogenetics and sits on the Medical and Research Advisory Board at the National Ataxia Foundation.
Transcript
Once you suspect a diagnosis of Friedreich’s in a classic young person or even in a less-than-classic older person, there is ample genetic testing available.
Many companies are offering confirmatory testing for the common mutations. Insurance companies will usually fund a diagnostic test if it’s a single-gene test and you’re not fishing with a large panel of genetic tests.
There are patient assistance programs that can help with the costs of genetic testing. And in general, if a person ends up being self-pay, the cost of a single-gene test is usually around $300. So it’s not cheap, but it’s not so expensive that they have to mortgage the house.
David Lynch, MD, PhD, is the director of the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia.