Diagnostic tests with FMR1 repeat expansion added to Blueprint Genetics offering

We are happy to announce the expansion of our offering portfolio. As an addition to our NGS-based tests, we now offer 3 diagnostic tests including FMR1 repeat expansion analysis.

• X-linked Intellectual Disability Panel with FMR1 repeat expansion is a 106-gene panel that includes assessment of non-coding variants. The panel is ideal for patients with a clinical suspicion of X-linked intellectual disability.
  • blueprintgenetics.com/tests/panels/neurology/x-linked-intellectual-disability-panel-with-fmr1-repeat-expansion/

• Premature Ovarian Failure Panel with FMR1 repeat expansion is a 17-gene panel that includes assessment of noncoding variants. The panel ideal is for patients with a clinical suspicion of premature ovarian failure.
  • blueprintgenetics.com/tests/panels/endocrinology/premature-ovarian-failure-panel-with-fmr1-repeat-expansion/

• Ataxia Panel with FMR1 repeat expansion is a 257-gene panel that includes assessment of non-coding variants. In addition, it also includes the maternally inherited mitochondrial genome.

  The panel is ideal for patients with a clinical suspicion of ataxia when repeat expansion variants, other than FMR1 repeat expansion, are excluded either as clinically incompatible or by previous testing.

  • blueprintgenetics.com/tests/panels/neurology/ataxia-panel-with-fmr1-repeat-expansion/