Spinal Muscular Atrophy
Genodiagnosis
Delivery time
4-6 weeks
Sample
Blood
"Spinal muscular atrophy (SMA) encompasses a group of genetically heterogeneous neuromuscular diseases. SMA is clinically classified into three types: acute, intermediate and mild, I (Werdnig-Hoffmann disease), II and III (Kugelberg-Welander disease) respectively. There is an additional type IV corresponding to the adult form. It is among the most frequent autosomal recessive disorders and has a carrier frequency of 1/40- 1/60.
The Survival Motor Neuron (SMN) gene exists as two homologs with at least one telomeric copy (SMN1) and one centromeric copy (SMN2) per chromosome in normal individuals. The two SMN genes are highly homologous with a 5bp difference in exons 7 and 8. Homozygous deletion of the SMN1 gene is responsible for the disease in 95% of cases, although mutations in the SMN1 gene can also occur in patients with only one of the two SMN1 alleles deleted (these mutations are not detectable by the technique used).
Other tests
Preventive health test - AboutMe EXOME
545,00€
GeneXvitae
300,00€
INTOLERANCIA A SULFITOS: 4 mutaciones frecuentes en GEN SUOX y 2 mutaciones frecuentes en GEN CBS - ATG Medical
200,00€