Confirm and clarify diagnosis   

Individualized insights for tailored treatment

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.

Mayo Clinic Laboratories’ full menu of hereditary ataxia testing includes a comprehensive panel that evaluates 198 genes associated with the disorder. In addition, we offer 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.

FFRWB    | Friedreich Ataxia, Frataxin, Quantitative, Blood

  • Establishes diagnosis of Friedreich ataxia through frataxin protein analysis.

AFXN    | Friedreich Ataxia, Repeat Expansion Analysis, Varies

  • Assesses for GAA trinucleotide repeat expansions within the FXN gene to confirm a molecular diagnosis of Friedreich ataxia.

SCAP    | Spinocerebellar Ataxia Repeat Expansion Panel, Varies

  • Assesses for CAG repeat expansions within ATXN1ATXN2ATXN3CACNA1A, 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 ATXN1ATXN2ATXN3CACNA1A, 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.

ISPP    | Inherited Spastic Paraplegia Gene Panel, Varies

  • Evaluates 128 genes associated with hereditary spastic paraplegia.

HAD    | Huntington Disease, Molecular Analysis, Varies

  • Detects for expansions of a CAG trinucleotide tract in exon 1 of the HTT gene.

Learn more about how to order these tests at your institution.