Ataxia

Ataxia, which involves poor muscle control that may cause difficulty with walking, balance, hand coordination, speech, and swallowing, results from damage to the cerebellum. While the condition can be caused by alcohol misuse, stroke, tumor, multiple sclerosis, and certain medications, it also has genetic causes.

Inherited forms of ataxia can be autosomal dominant or autosomal recessive, with different genetic variants causing different types — most of which are progressive.

Our full menu of hereditary ataxia testing includes both a comprehensive panel and focused panels that evaluate for Friedreich’s ataxia and spinocerebellar ataxia, which are among the most common forms of inherited disease. In addition to molecular testing for Friedrich’s ataxia, we offer biochemical testing for frataxin protein analysis.

Key testing

• ATAXP | Inherited Ataxia Gene Panel, Varies
  • Evaluates 198 genes associated with ataxia.
• AFXN | Friedreich Ataxia, Repeat Expansion Analysis, Varies
  • Assesses for GAA (trinucleotide repeat expansions within the FXN gene) to confirm a molecular diagnosis of Friedreich’s ataxia.
• FFRWB | Friedreich Ataxia, Frataxin, Quantitative, Blood
  • Establishes diagnosis of Friedreich ataxia through frataxin protein analysis.
• SCAP | Spinocerebellar Ataxia Repeat Expansion Panel, Varies
  • Assesses for CAG repeat expansions within ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 genes associated with spinocerebellar ataxia (SCA) type 1, SCA2, SCA3, SCA6, and SCA7.
  • Testing for ATXN1 assesses for CAT trinucleotides that interrupt the CAG repeat tract.
• SCARA | Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies
  • Assesses for CAG (cytosine-adenine-guanine) repeat expansions within the ATXN1, ATXN2, ATXN3, CACNA1A, or ATXN7 genes associated with SCA1, SCA2, SCA3, SCA6, and SCA7.
  • Additionally, testing for ATXN1 assesses for CAT (cytosine-adenine-thymine) trinucleotides that interrupt the CAG repeat tract.

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Huntington’s disease

Key testing

• HAD | Huntington Disease, Molecular Analysis, Varies
  • Detects for expansions of a CAG trinucleotide tract in exon 1 of the HTT gene.

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Inherited spastic paraplegia

Key testing

• ISPP | Inherited Spastic Paraplegia Gene Panel, Varies
  • Evaluates 128 genes associated with hereditary spastic paraplegia.

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Parkinson’s disease

For patients with a family history of Parkinson’s disease, understanding their genetic risk of developing the condition is an important first step in tailoring interventions that may delay symptom onset and progression.

Genetic testing can reveal characteristics about prognosis and may help guide and customize treatment selection. Genetic testing is also important for patients affected by early-onset illness, which is more often due to genetic causes. Although known genetic variation is present in only 10% to 15% of patients, awareness regarding specific genetic causes can deepen understanding of disease progression and enable elevated outcomes.

Our comprehensive Parkinson’s disease gene panel was developed by a multidisciplinary team of clinicians, geneticists, and laboratory testing experts, and includes genes known for causing Parkinson’s disease, but also genes that increase the likelihood of developing the condition.

Key testing

• PARDP | Inherited Parkinson Disease Gene Panel, Varies
  • Uses next-generation sequencing to detect single nucleotides and copy number variants in 94 genes associated with Parkinson’s disease.
  • Establishes molecular diagnosis.
  • Identifies variants within genes known to be associated with Parkinson’s disease, enabling predictive testing for at-risk family members.
  • Includes variants associated with certain high-risk ancestral groups.