Other genetic diseases

Devyser Thalassemia NGS

NGS kit for the detection of variants in the genes HBA1, HBA2, HBB and 17 other CNVs associated with thalassemia.

SOPHiA Nephropathies Solution

NGS panel enabling the detection of SNVs, InDels and CNVs in 44 genes associated with nephropathies using hybrid capture technology.

SOPHiA Hereditary Disorder Solution

NGS panel for detection of SNVs, InDels and CNVs in 569 genes using hybrid capture technology.

LAMP Human Lactose Intolerance Duplex KIT

Kits for the detection of the most common polymorphisms associated with lactose intolerance in adulthood using LAMP technology.

LAMP Human HLA Coeliac Direct KIT

Kit for the detection of DQA1*05, DQB1*02 and DQB1*0302 alleles associated with celiac disease using LAMP technology.

LAMP Human Fructose Intolerance KIT

Kit for detection of the most common polymorphism associated with hereditary fructose intolerance using LAMP technology.

LAMP Human HLA-B27 detection KIT

Kits for the detection of HLA-B27 alleles and polymorphism for the diagnosis of ankylosing spondylitis using LAMP technology.

LAMP Human A1AT deficiency KIT

Kit for detection of two SERPINA1 alleles associated with alpha-1 antitrypsin deficiency using LAMP technology.

LAMP Human Hemoglobin S&C mutation KIT

Kit for the detection of two alleles (hemoglobin S and C) associated with the risk of sickle cell disease using LAMP technology.

SCAs KIT-FL

Kit for the amplification of the CAG polymorphic repetition in the genes ATXN1, ATXN2, ATXN3, CACNA1A and ATXN7 associated with spinocerebellar ataxias types 1, 2, 3, 6 and 7.

PROTRANS HLA Celiac Disease

A system for HLA typing of alleles associated with celiac disease.

TarCET IVD kits

Detection of SNV, InDel and CNV germline mutations for a wide range of diseases by NGS.