GeneDx, an OPKO Health company, has recently launched several genetic tests. Within this group of tests are repeat expansion analysis for Friedreich ataxia, spinocerebellar ataxia (SCA), and other forms of hereditary ataxia. In addition to the genetic tests already offered by GeneDx, these tests offer patients an affordable and comprehensive group that covers nearly all of the genes associated with both pediatric and adult forms of ataxia.

Genetic Testing for Ataxia

Genetic testing is very limited for adult-onset ataxia, as only a small number of diagnostic labs offer the tests. This dearth of labs results in high costs for patients, low offerings of necessary tests, and long turnaround times. GeneDx plans to help with this problem with their new tests.

Nucleotide repeat expansions within DNA are often the cause of hereditary adult-onset ataxia. Specialized testing is typically required to diagnose these conditions. For the remaining forms of hereditary ataxias, the causes are either copy number variants (CNVs) and single nucleotide variants (SNVs), which can be identified through deletion-duplication and sequencing testing.

Using this knowledge, GeneDx aimed to solve the problem of limited testing for hereditary ataxias. Their hope is to outline their commitment to rare disease patients and fill an unmet need.

About Friedreich Ataxia

Friedreich ataxia is a rare, hereditary disease that is characterized by movement and neurological symptoms. Affected individuals typically notice the effects around age 15, where they will experience difficulty moving and slurred speech. Symptoms will continue and may expand to problems with vision and hearing, cardiac arrhythmia, chest pain, fatigue, shortness of breath, foot abnormalities, scoliosis, and diabetes mellitus. A mutated FXN gene is responsible for this condition. This gene normally produces frataxin, which is necessary for proper mitochondrial function. When it is mutated, this process is interrupted and the mitochondria can no longer perform their functions. It is inherited in an autosomal recessive pattern. Treatment is symptomatic.

About Spinocerebellar Ataxia (SCA)

Spinocerebellar ataxia is a group of conditions that are characterized by damage to the nervous system and ataxia. There are a number of forms of SCA; they are defined by the genetic mutation that causes them. They can be passed down in both autosomal recessive and dominant patterns, and some do not have an identified mutation yet. Regardless of cause, a common symptom of SCA is progressive difficulty walking. Other symptoms include impaired hand-eye coordination, irregular gait, abnormal speech, involuntary eye movements, issues with vision, and difficulty learning, processing, and remembering information. Treatment is symptomatic.

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