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:

• Comprehensive preconception carrier test panel¹
• Fetal akinesia panel
• Mendelian inherited disorders panel with genome wide CNV analysis

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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