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Description
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy caused by the degeneration of motor neurons in the anterior horn of the spinal cord.
CB-Gene has developed the SMA-SMN1/2 standard material for molecular diagnostics, which is highly accurate, stable and effective, ensuring the accuracy of prenatal diagnosis and testing.
Relying on the powerful cell sample library resources of CB-Gene, we screened out cell lines with different SMN1 and SMN2 gene states. Subsequently, we extracted genomic DNA from these cells and used the gold standard method of MLPA (multiple ligation probe amplification) to accurately detect the copy number variation (CNV) of the SMN1/SMN2 gene, providing reliable data support for the molecular diagnosis of genetic diseases such as spinal muscular atrophy (SMA).
General information
Name | SMN1 (E7-E8) Del SMN2 (E7-E8) Del Reference Standard |
Cat. No. | CBPD0040 |
Format | Genomic DNA |
Size | 1ug |
Buffer | Tris-EDTA |
Storage Conditions | 2~8℃ |
Expiry | 36 months from the date of manufacture |
Technical Data
Copy number | SMN1 CN=1 |
SMN2 CN=1 | |
Definition | SMN1 Loss |
SMN2 Loss |
MLPA Result Graph
Related Products List
Description
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy caused by the degeneration of motor neurons in the anterior horn of the spinal cord.
CB-Gene has developed the SMA-SMN1/2 standard material for molecular diagnostics, which is highly accurate, stable and effective, ensuring the accuracy of prenatal diagnosis and testing.
Relying on the powerful cell sample library resources of CB-Gene, we screened out cell lines with different SMN1 and SMN2 gene states. Subsequently, we extracted genomic DNA from these cells and used the gold standard method of MLPA (multiple ligation probe amplification) to accurately detect the copy number variation (CNV) of the SMN1/SMN2 gene, providing reliable data support for the molecular diagnosis of genetic diseases such as spinal muscular atrophy (SMA).
General information
Name | SMN1 (E7-E8) Del SMN2 (E7-E8) Del Reference Standard |
Cat. No. | CBPD0040 |
Format | Genomic DNA |
Size | 1ug |
Buffer | Tris-EDTA |
Storage Conditions | 2~8℃ |
Expiry | 36 months from the date of manufacture |
Technical Data
Copy number | SMN1 CN=1 |
SMN2 CN=1 | |
Definition | SMN1 Loss |
SMN2 Loss |
MLPA Result Graph
Related Products List
