Reference Materials

Reference genomic DNA samples with verified mutations
in CFTR, PAH and GALT genes.
Intended use:
- verification of the developed diagnostic tools;
- basic scientific, translational or clinical research;
- pharmacogenetic research;
- reference material to perform quality control in the laboratory;
- sets of reference data for bioinformatics applications and tools development and verification.

Features:
For all samples the following information is available:
- high-performance MPS data;
- high-performance Sanger sequencing data;
- list of the verified genetic variants;
- list of analyzed regions.

MLPA data are available for a n
umber of samples.

Wild-type samples are also available, i.e. samples with
no phenotype and clinically relevant variants in the examined genes.

1
Uniqueness
Contains unique samples from patients with cystic fibrosis, phenylketonuria and galactosemia diagnosis.
2
Information
Clinical features are available
for samples.
3
Reference
Contains biological samples from healthy individuals with confirmed genetic variants.
Samples types
CFTR

PAH

GALT

Variation types
SNP

CNV

Homopolymers

Deletions

142
Unique pathogenic
mutations
1452 kb
MPS-sequenced regions
full length

480 kb
Sanger-sequenced regions
full length
Reference genomic DNA samples with variants within CFTR verified by Sanger sequencing. Datasheet DS-5en A010716.
Reference genomic DNA samples with variants within CFTR detected with MPS assay. Datasheet DS-4en B191216.
Reference materials play a crucial role in new methods for biological samples analysis development and verification.
Standardized samples with defined genetic variants within defined regions of the genome provide a good basis for the implementation
of research quality control methods.
Order samples
To order samples from the biobank or to get more information please contact us via email with "Biobank" in the theme field.
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