Genetic examinations list

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Spinal muscular atrophy – determination of copy number of exon 7 and 8 in the SMN1 gene

Examination of SMN1 and SMN2 genes associated with spinal muscular atrophy (SMA) by MLPA method. This concerns an autosomal recessive disease that is most often associated with homozygous deletion of exon 7 in the SMN1 gene (almost 95% of all patients with SMA).

more informations

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

3 days