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Article

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.

European journal of human genetics : EJHG - 1 Apr 2017

Parks Michael, Court Samantha, Bowns Benjamin, Cleary Siobhan, Clokie Samuel, Hewitt Julie, Williams Denise, Cole Trevor, MacDonald Fiona, Griffiths Mike, Allen Stephanie

Abstract excerpt

Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, we have now developed a test for the NIPD of an autosomal-recessive disorder, spinal muscular...

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Share to Genetic Testing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Share to Survival of Motor Neuron 1 Protein

Source

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Identifiers

PMID: 28120840
DOI: 10.1038/ejhg.2016.195
PMCID: PMC5386415

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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