Genetic disorders

A selection of insight articles on the topic of genetic disorder biomarkers:

Early, easy, efficient and cost-effective diagnosis of Cystic Fibrosis

Cystic Fibrosis is one of the most frequent life threatening inherited diseases. If detected early, effective treatment can be started improving...

Nov 28, 2019

Genetic disorders

Cystic Fibrosis, diagnosis and molecular testing

Cystic fibrosis (CF) is one of the most frequent human genetic disorders, predominantly affecting individuals of Caucasian descent in North America...

May 22, 2019

INNO-LIPA^® CFTR Deletions+6

Product number 81391 -

Multiparameter line probe assay, based on the reverse hybridization principle, for the simultaneous detection and identification of 8 large rearrangements and 6 mutations and their wild-type sequences in human whole blood, dried blood spots, and buccal brush samples.

CE marked

Detail

INNO-LiPA^® CFTR Extra

Product number 80533 -

Line probe assay, intended for the simultaneous in vitro detection and identification of 18 human Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations and their wild type sequence in human whole blood, dried blood spots or buccal brushes.

CE marked

Detail

INNO-LiPA^® CFTR Italian Regional

Product number 80710 -

Multiparameter line probe assay, based on the reverse hybridization principle, for the simultaneous detection and identification of 21 Italian cystic fibrosis-related mutations and their wild-type sequences in human whole blood, dried blood spots and buccal brush samples.

CE marked

Detail

INNO-LiPA^® CFTR 17+Tn Update

Product number 80558 -

Multiparameter line probe assay, based on the reverse hybridization principle, for the simultaneous detection and identification of 36 cystic fibrosis-related mutations and their wild-type sequences in human whole blood, dried blood spots, and buccal brush samples.

CE marked

Detail

INNO-LiPA^® CFTR 19

Product number 80560 -

Multiparameter line probe assay, based on the reverse hybridization principle, for the simultaneous detection and identification of 35 cystic fibrosis-related mutations and their wild-type sequences in human whole blood, dried blood spots, and buccal brush samples.

CE marked

Detail

INNO-LiPA^® CFTR iage

Product number 80597, 80598, 80599 -

The INNO-LiPA CFTRiage is a line probe assay, intended for the simultaneous in vitro detection and identification of 88 human Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations and their wild type sequence in human whole blood, dried blood spots or buccal brushes.

CE marked

Detail