IVD Assay Development

Seraseq® Carrier Screening DNA Mix

Material Number 0730-0569
Size 1 x 20µL
Inventory Status In Stock
Unit EA

The Seraseq Carrier Screening DNA Mix is a reference material intended for use in the development, validation, and evaluation of routine performance of Next Generation Sequencing (NGS) carrier screening assays (and other molecular assays) that identify inherited (germline) variants in genes associated with monogenic diseases.
This is a highly multiplexed and comprehensive reference material containing 54 clinically important SNVs, deletions and duplications occurring in inherited hemoglobinopathies, deafness, heart disease, immunodeficiency, neuromuscular and treatable metabolic disorders.

FEATURES AND BENEFITS

  • Develop and validate carrier screening-based NGS assays with confidence using a highly multiplexed reference material containing important monogenic disorder biomarkers.
  • Contains 54 clinically important variants from 48 genes associated with the most common monogenic disorders: Cystic Fibrosis, Spinal Muscular Atrophy (SMA), α- and β-thalassemia, congenital deafness, fragile X syndrome, sickle cell disease, Tay–Sachs disease, Gaucher disease, Phenylketonuria, Cardiomyopathy, Smith–Lemli–Opitz syndrome and many more.
  • Variants are present within a single well-characterized genomic background (GM24385) at clinically relevant allele frequencies, precisely quantitated by digital PCR and orthogonally verified by NGS.
  • Manufacturing of large batches with long shelf-life allows for repeated use of the same lot for validation, or assay performance assessment over time.

Seraseq Carrier Screening DNA Mix Product Sheet

Doc type
Product Sheet

Seraseq Carrier Screening DNA Mix

Doc type
Package Insert

Technical Spreadsheet for Seraseq Carrier Screening DNA Mix

Doc type
Technical Spreadsheet

Seraseq Carrier Screening DNA Mix

Doc type
Certificate of Analysis/Technical Product Report
Lot #
10709655

Product Specifications 

# of genes 

48 genes 

# of mutations 

54 variants (not including those present in the GM24385 background) 

Format 

1 mM Tris, 0.1 mM EDTA, pH 8.0 

Size 

1 x 20 µL 

Nominal Concentration 

30 ng/µL  

(Please refer to the technical report for the batch-specific concentration)