Table 1.

Molecular Genetic Testing Used in Spinal and Bulbar Muscular Atrophy

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
AR Targeted analysis 3100%
1.
2.

See Molecular Genetics for information on variants detected in this gene.

3.

CAG repeat number can be determined by fragment length analysis of amplicons from polymerase chain reaction (PCR) amplification of the CAG repeat region within AR.

From: Spinal and Bulbar Muscular Atrophy

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