ULLRICH CONGENITAL MUSCULAR DYSTROPHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 4 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Ullrich Congenital Muscular Dystrophy Panel analyzes four genes associated with a severe form of congenital muscular dystrophy caused by defects in type VI collagen, a protein essential for the stability and function of connective and muscle tissue. This disease is characterized by neonatal hypotonia, proximal muscle weakness, congenital contractures, distal hyperlaxity, motor delay, and progressive loss of ambulation, as well as possible respiratory and cutaneous involvement (velvety skin or a tendency to form keloid scars). Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of pathogenic mutations in the COL6A1, COL6A2, COL6A3, and COL12A1 genes, which are responsible for the altered formation and assembly of type VI collagen. Precise molecular identification facilitates differential diagnosis with other congenital muscular dystrophies and guides clinical follow-up, physical therapy, and genetic counseling.
Other tests
Preventive health test - AboutMe EXOME
545,00€
NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical
600,00€
Custom sequencing panels (1 to 15 genes)
660,00€