Ataxia-telangiectasia [1 gene]

Ataxia-telangiectasia is characterized by the onset in pediatric age of progressive neurological manifestations (initially cerebellar ataxia, typically followed by extrapyramidal involvement and peripheral sensorimotor neuropathy), immunodeficiency (variably associated with abnormalities of humoral immunity, cellular immunity or combined immunodeficiency), lung disease and increased risk of malignancy. Life expectancy is significantly reduced due to cancer, lung diseases and infections.

1 / 40,000 – 300,000.

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Ataxia-telangiectasia

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202314050

Ataxia-telangiectasia: View panel
  • ATM

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Veenhuis S, van Os N, Weemaes C, et al. Ataxia-Telangiectasia. 1999 Mar 19 [Updated 2023 Oct 5]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26468/