Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method.

doi:10.1093/labmed/lmz088

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Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method.

Laboratory medicine - 8 Jul 2020

Azad Abul Kalam, Huang Chih-Kang, Jin Hong, Zou Hongwei, Yanakakis Lindsay, Du Juan, Fiddler Morry, Naeem Rizwan, Goldstein Yitz

Abstract excerpt

BACKGROUND: Individuals whose copies of the survival motor neuron 1 (SMN1) gene exist on the same chromosome are considered silent carriers for spinal muscular atrophy (SMA). Conventional screening for SMA only determines SMN1 copy number without any information regarding how those copies are arranged. A single nucleotide variant (SNV) rs143838139 is highly linked with the silent carrier genotype, so testing for...

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PMID: 31875889
DOI: 10.1093/labmed/lmz088

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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