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Mutations in the alpha- and beta-globin genes lead to reduced or abolished globin-chain synthesis or cause structurally abnormal hemoglobin. The β-Thal Modifier StripAssay® identifies co-inherited variants known to ameliorate severity of beta-thalassemia. An Assay for the identification of 5 polymorphisms associated with severity of β-thalassemia based on polymerase chain reaction (PCR) and reverse-hybridization.
Cystic Fibrosis (CF) is the most prevalent life-limiting autosomal recessive disorder in the Caucasian population. We offer population-tailored CF StripAssays® including 34 common CFTR mutations and the IVS8 variants 5T/7T/9T. An assay for the identification of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations based on polymerase chain reaction (PCR) and reverse-hybridization.
Thalassemias are characterized by inherited defective hemoglobin synthesis leading to microcytic, hemolytic anemias. The clinical heterogeneity ranges from asymptomatic to very severe forms requiring regular blood transfusions. α-Globin StripAssay® detects common thalassemia-causing genetic variants worldwide. An assay for the identification of 21 common α-globin gene mutations based on polymerase chain reaction
(PCR) and reverse-hybridization.
Lactose intolerance is a frequent autosomal recessive condition causing diarrhea, nausea, and flatulence. The disease is strongly associated with genetic variants regulating the expression of the lactase (LCT) gene. An assay for the identification of two lactase genes, polymorphisms -13910T>C and -22018A>G, associated with hereditary lactose intolerance based on polymerase chain reaction (PCR) and reverse-hybridization.
Hereditary fructose intolerance is an autosomal recessive disorder caused by variants of the aldolase B (ALDOB) gene. Affected subjects suffer from abdominal pain, vomiting, hypoglycemia, and unless fructose-containing food is strictly avoided may even die from organ damage. The Sugar Intolerance StripAssay identifies two lactase gene polymorphisms and four aldolase B gene mutations associated with hereditary lactose or fructose intolerance based on polymerase chain reaction (PCR) and reverse-hybridization.
Congenital adrenal hyperplasia (CAH) is an inherited disorder affecting steroid hormone synthesis. The CAH StripAssay® detects the most common point mutations. An Assay for the identification of eleven CYP21A2 mutations associated with Congenital Adrenal Hyperplasia (CAH) based on polymerase chain reaction (PCR) and reverse-hybridization.
Familial Mediterranean Fever (FMF) is characterized by recurrent episodes of fever accompanied by painful inflammatory events. The FMF StripAssays® identifies the most frequent disease-causing variants in the MEFV gene and risk factors for amyloidosis. An assay for the identification of 12 MEFV gene mutations based on a polymerase chain reaction (PCR) and reverse-hybridization.
Hereditary haemochromatosis is one of the most prevalent genetic disorders in the Northern European population. It is characterized by the progressive accumulation of iron in various organs. The Haemonchromatosis StripAssay® A identifies 18 mutations: twelve HFE mutations, four TFR2 mutations and, two FPN1 mutations.
Hereditary haemochromatosis (HH) is an inherited iron overload disorder characterized by excessive absorption and deposition of iron. This assay identifies 3 HFE gene mutations: C282Y, H63D, S65C based on polymerase chain reaction (PCR)
and reverse-hybridization.
Gaucher disease, the most common inherited lysosomal storage disorder, is caused by genetic variants in the GBA gene leading to glucocerebrosidase deficiency. The Gaucher Disease StripAssay® identifies the most frequent mutations and recombinant alleles. An assay for the identification of 8 mutations and two recombinant alleles in the glucocerebrosidase (GBA) gene based on polymerase chain reaction (PCR) and reverse-hybridization.
A severe long-term complication is systemic AA amyloidosis, which is characterized by extracellular deposition of proteolytic fragments of serum amyloid A (SAA) ultimately leading to organ damage. The homozygous condition of the SAA isotype SAA1.1 is significantly linked to AA amyloidosis and clinical severity in patients with FMF and rheumatoid arthritis. An assay for the identification of 12 MEFV mutations and SAA1 genotypes 1.1, 1.3, and 1.5. based on polymerase chain reaction (PCR) and reverse-hybridization.
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