VariFind™ Neoscreen assay
NGS-based assay for testing of cystic fibrosis, phenylketonuria and galactosemia

Intended use: genetic diagnosis of newborns in multi-tier schemes carrier screening of IVF donors and couples planning family
Assay information
Genes included
CFTR, PAH, GALT
Analyzed region
All exons and splicing sites, clinically significant variants from deep intronic and promoter regions
Target region size
22 kb
Specific features
Included to design: CFTRdele2-3, EX5del4232ins268, PAHdele5*
Detects poly-T/TG-repeats
*do not require confirmation via MLPA
Platform
Illumina MiSeq Series
Thermo Fisher Scientific Ion PGM/S5
Assay workflow
NGS Libraries Preparation
Sequencing
Automated data analysis & annotation
Report generation
Sequencing conditions for Illumina
The recommended length cycling format for sequencing libraries prepared using VariFind™ Neoscreen assay IL-v3 are 500 and 600-cycle run in paired-end mode.
Assay is compatible with Illumina™ MiSeq® Series Systems (MiSeq®, MiSeq® Dx, MiSeq® FGx in research mode).

MiSeq Reagent Kit v2
Cycles
Output
Output in reads
Reads per sample
Max. sample/run
500
2 x 250 bp
15 000 000
≈ 120 000
96 (125)

MiSeq Reagent Nano Kit v2
Cycles
Output
Output in reads
Reads per sample
Max. sample/run
500
2 x 250 bp
15 000 000
≈ 120 000
8

MiSeq Reagent Kit v3
Cycles
Output
Output in reads
Reads per sample
Max. sample/run
600
2 x 300 bp
25 000 000
≈ 120 000
96 (208)
Sequencing conditions for Ion Torrent
The recommended length cycling format for template preparation and sequencing libraries prepared using VariFind™ Neoscreen assay LT-v1 is 400 bp sequencing.
Assay is compatible with Ion PGM™ System, Ion S5™ or Ion S5™ XL Systems.

Ion 316™ Chip
Output in reads
Reads per sample
Max. sample/run
2 000 000 -3 000 000
≈ 100 000
24 (30)

Ion 318™ Chip
Output in reads
Reads per sample
Max. sample/run
4 000 000 -4,5 000 000
≈ 100 000
48 (55)

Ion 520™ Chip Kit
Output in reads
Reads per sample
Max. sample/run
5 000 000
≈ 100 000
48 (50)

Ion 530™ Chip Kit
Output in reads
Reads per sample
Max. sample/run
20 000 000
≈ 100 000
96 (200)
Made on
Tilda