SMN1 gene full mutation analysis in Blood or Tissue by Sequencing

SMN1 gene Full Mut Anl Bld/T Seq

Definition

Full gene sequencing of the SMN1 gene, including all protein-coding regions and intron/exon boundaries of the gene. Testing is performed to confirm a diagnosis of spinal muscular atrophy (SMA) due to variants in SMN1 gene. This test is also used for at-risk family members who have a family history of spinal muscular atrophy but an affected individual is not available for testing, or when disease-causing mutations are unknown.

BCD541; Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Gemin 1; GEMIN1; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Kugelberg-Welander disease; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; SMA; SMA gene; SMA@; SMA1; SMA2; SMA3; SMA4; SMN; SMNT; SMV; spinal muscular atrophy; Survival motor neuron protein gene; survival of motor neuron 1, telomeric; T-BCD541; TDRD16A; Tissue; Tissue, unspecified; WB; Werdnig-Hoffmann disease; Whole blood; Whole blood or Tissue

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