SMN1 Exon 7 Deletion/Duplication

Test Background

Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. Approximately 96% of patients with SMA show homozygous absence (deletion or gene conversion) of SMN1 exon 7. The remaining patients have compound heterozygosity with a single SMN1 exon 7 deletion/gene conversion and point mutation on the other allele. This test does not detect point mutations nor does it detect SMN2 copy number.

Disorder(s)

Spinal muscular atrophy (SMA)

Gene(s): 

SMN1

Lab Method

MLPA

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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