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TTR gene mutation; transthyretin gene mutation

Clinical significance: - defects in transthyretin (TTR) are the cause of a) amyloidosis b) euthyroid dystransthyretinemic hyperthyroxinemia c) carpal tunnel syndrome type 1 - see transthyretin

Related

transthyretin; ATTR; prealbumin; TBPA (TTR PALB)

General

gene mutation testing; gene mutation analysis TTR genotyping

References

  1. Loinc
  2. ARUP Consult: Familial Transthyretin Amyloidosis (TTR) Sequencing https://arupconsult.com/ati/familial-transthyretin-amyloidosis-ttr-sequencing