Introduction

Spinal Muscular Atrophy (SMA) gDNA reference standard contains different variants of SMN1 and SMN2 with copy numbers of between 0 to 5. This product is intended as a quality control for translational and disease research testing to monitor library preparation, sequencing, and variant allele detection under a given set of bioinformatics pipeline parameters.

Key Features

 Derived from human cell line 

Better mimic clinical family samples 

 Wide range of applications 

NGS, MLPA and other PCR-based platforms 

 Stable performance 

SMN gene copy number are verified by MLPA to ensure  stability among batches

Application

 Product development and  registration certificate 

Third party reference standards for enterprises

 Routine quality control  

Internal quality and external quality  control for clinical testing

 Methodological  comparison 

Comparing for performance  differences across platforms

 Performance evaluation  of assays 

Kit performance evaluation

Product list

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