Thermo Fisher Scientific CarrierMax SMN1/SMN2 Reagent Kit

Applied Biosystems™ CarrierMax™ SMN1/SMN2 Reagent Kit

The CarrierMax SMN1/SMN2 Reagent Kit utilizes multiplex PCR amplification of genomic DNA and capillary electrophoresis to detect deletions in exon 7 of the Survival of Motor Neuron 1 (SMN1) gene that result in truncated SMN protein. Additionally, the kit detects two variants associated with the silent carrier (2+0) haplotype.

Results are processed with GeneMapper Software and CarrierMax Software to consolidate data and simplify carrier classifications in spinal muscular atrophy (SMA) carrier screening research.

Key Features

• Accurately and consistently detect Exon 7 copy number states (0, 1, or ≥2) for both SMN1 and SMN2
• Determine if SMN1 to SMN2 Exon 7 gene conversion has occurred
• Detect haplotype variants associated with SMA silent (2+0) carrier status
• Perform fragment analysis on Applied Biosystems 3500/3500xL or SeqStudio Genetic Analyzer
• Analyze and report carrier classification easily using GeneMapper and CarrierMax Software

Research Background

SMA associated with loss of SMN1 is a leading cause of neurodegenerative disorders and a critical target for carrier screening.
Approximately 95% of SMN1 losses are due to complete gene deletions or point mutations in Exon 7 that lead to splice variants and less functional SMN2 transcripts.
In some cases, recombination results in two SMN1 genes on one chromosome (2+0), which conventional methods may miss.
The CarrierMax kit enables rapid and accurate determination of SMN1 Exon 7 copy number and potential 2+0 carrier status through haplotype assessment.

How to Use

The kit includes reagents for 50 samples for SMN1 carrier screening research using SeqStudio or Applied Biosystems 3500 genetic analyzers.
The workflow involves:

1. Preparation of high-quality DNA (e.g., whole blood)
2. Dual PCR cycling reactions (~2 hours)
3. Capillary electrophoresis run (~1 hour)
4. Data analysis (~10 minutes)

Downloads

• Download CarrierMax Software (.zip)
• SeqStudio GeneMapper files
• 3500/XL GeneMapper files

Quality of Performance

• Analytical sensitivity and specificity: >99% (Coriell control standards)
• Accuracy in carrier classification: >99%
• Proven reproducibility across experiments, labs, and systems
• Suitable for Expanded Carrier Screening research applications

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