Spinal muscular atrophy

SMN1 - Spinal muscular atrophy ¹

This test is available for the following conditions:

• Conditions > Neuromuscular > Spinal muscular atrophy

This product is also part of the following panels:

• WES comprehensive preconception carrier test ¹
• WES fetal akinesia (93.9% *)
• WES Mendelian inherited disorders (93.9% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
3 weeks

Method

• Deletion/duplication analysis (MLPA)

OMIM: 600354
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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