CONGENITAL MYASTHENIC SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 30 genes

LabGenetics
Caja de CONGENITAL MYASTHENIC SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 30 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de CONGENITAL MYASTHENIC SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 30 genes

The Congenital Myasthenic Syndrome panel analyzes the genetic causes of a group of neuromuscular transmission disorders characterized by fluctuating muscle weakness, fatigability, and sometimes respiratory or bulbar involvement. Mutations affect genes that encode presynaptic, synaptic, or postsynaptic components of the neuromuscular junction, and their identification is essential for differential diagnosis with autoimmune myasthenia gravis and congenital myopathies. The study helps guide specific pharmacological treatment and family genetic counseling. Genes analyzed include: CHRNE, RAPSN, DOK7, COLQ, CHAT, and others. You can consult the complete list of analyzed genes by contacting Genotica.

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