Cystic fibrosis is an autosomal recessive disease that occurs in one in every 2,500 live births in many communities. The mutations in the gene that codes the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which acts as a chlorine channel, are responsible for this disease. The epithelial cells in the intestines and respiratory system, pancreatic cells and sweat glands are directly affected by this disease. The increased mucus production accompanying the reduced mucociliary activity results in obstructive pulmonary disease and bacterial infections, which lead to death due to respiratory failure, are the main cause of mortality in patients with cystic fibrosis. Pancreatic failure may also be observed in patients due to the inability to release sufficient digestive enzymes. 97-98% of men with cystic fibrosis also suffer from azoospermia due to the absence of bilateral congenital vas deferens (CBAVD). In addition, fertility problems may occur in female patients due to impaired cervical mucus quality. To date, approximately 1,800 mutations have been identified in the CFTR gene. The size of the CFTR gene (27 coding exons) renders the molecular diagnosis of the disease difficult.

FAST-CFTR® SEQUENCING KIT is a Sanger sequence analysis based kit developed to investigate mutations occurring in the CFTR gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to sequence exons 2,4,11,12,14,16,20,22,23,24 of the CFTR gene by Sanger sequence analysis method, achieves this with a single PCR condition that is realized in 11 tubes.

USAGE AREAS

The accurate and rapid screening of cystic fibrosis disease is of paramount importance in the diagnosis of this extremely common disease. Individuals with cystic fibrosis may have complaints related to the respiratory, gastrointestinal, and reproductive systems. In these cases, it is crucial that awareness of cystic fibrosis is increased and the situation clarified by a genetic test.

TECHNICAL SPECIFICATIONS

Janus Kinase 2 (JAK2) gene is responsible for production of JAK2 protein in cells. JAK2 tyrosine kinase protein is a specific protein of cytokine receptor signalling pathway. This receptor functionally interacts with prolactin receptor and is required for gamma interferon responses. JAK2 protein is involved in cell growth and it is especially important for the control of blood cell production in bone marrow. This test allows for detection of bone marrow deficiencies. JAK2 related bone marrow deficiencies are known as Myeloproliferative Neoplasms (MPNs) which are characterized as excessive production of white blood cells, red blood cells and/or thrombocites in the bone marrow.

FAST-JK2 SEQUENCING KIT is a Sanger sequence analysis based kit developed to investigate mutations occurring in the JAK2 gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to sequence 12th and 14th exons of the JAK2 gene by Sanger sequence analysis method, achieves this with a single PCR reaction that is realized in 5 tubes.

USAGE AREAS

In the countries within the Mediterranean region, which includes Turkey, the major disease of β-thalassemia, in which the β-globin chain is produced in reduced quantities or not at all, is often observed. β-thalassemia is one of the most common single gene diseases and is an important public health problem. Mutations in the β-globin (HBB) gene are responsible for this disease and the disease is inherited as autosomal recessive. The major strain of β-thalassemia occurs in those who carry the mutations as a homozygote or combined heterozygote.

β-thalassemia is a form of hemolytic anemia characterized by major growth retardation, deterioration in almost all organ functions, increased iron absorption, and iron loading due to recurrent blood transfusions. The minor strain of β-thalassemia (β-thalassemia carrier) refers to the carrier state resulting from the presence of one mutation in the gene. Carriers often do not exhibit clinical symptoms and it may not be picked up during routine blood counts. The β-thalassemia carrier rate is as high as 10% in some regions in our country.

The disease is caused by mutations in the HBB gene. More than 800 mutations have been identified in the HBB gene.

FAST-HBB® SEQUENCING KIT is a Sanger sequence analysis based kit developed to investigate mutations occurring in the HBB gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to sequence all exons, introns, the 5 ´and 3´ UTR regions of the HBB gene by Sanger sequence analysis method, achieves this with a single PCR reaction that is realized in 5 tubes.

USAGE AREAS

FAST-HBB® SEQUENCING KIT was developed for the complete screening of both structural hemoglobin variants and thalassemic variants. Sickle cell anemia can also be diagnosed. The establishment of a genetic disorder in hemoglobinopathy carriers is extremely important in confirming the diagnosis, genetic counselling, indicators for prenatal diagnosis, its monitoring and its treatment.

TECHNICAL SPECIFICATIONS

Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disease characterized by recurrent attacks of fever and pain. The disease follows a sequence marked by fever accompanied with peritonitis, pleuritis and arthritis. Typically, the attacks are accompanied by fever and serositis and last for 1 to 4 days, during which spontaneous healing is observed. Renal failure due to amyloidosis is the most serious complication of the disease. The disease is very common, especially in the Turkish, Armenian, Arab and Jewish communities as well as the Ashkenazi. In these communities, the incidence of the disease can increase to one in 200 and the carrier frequency is one in 5.

The disease is caused by mutations in the MEFV gene. The MEFV encodes the ´pyrin´ protein. The MEFV encodes the broad ´pyrin´ protein. The gene is mainly expressed in granulocytes and is responsible for bringing inflammation under control. Up to 180 mutations have been identified in the MEFV gene.

FAST-FMF® SEQUENCING KIT is a Sanger sequence analysis based kit developed to investigate mutations occurred in the MEFV gene in the DNA molecules isolated from blood or tissue. This kit, which was developed to sequence the exons 2,3, 5 and 10 exons, where the most frequent mutations in the MEFV gene occur, and exon-introns resultants by the Sanger sequence analysis method, achieves this with a single PCR condition and a PCR reaction that is realized in a total of 4 tubes.

USAGE AREAS

FAST-FMF® SEQUENCING KIT is used for the rapid, low-cost and reliable diagnosis of Familial Mediterranean Fever (FMF) by a Sander sequence analysis method. FMF is not only one of the most commonly occurring genetic diseases in our society, but it is also a very important disease in the differential diagnosis of acute abdominal pain. It is imperative that patients with recurrent fever and attacks of pain need be investigated.

TECHNICAL SPECIFICATIONS

Periodic fever syndromes are characterized by various levels of inflammatory symptoms accompanied with recurrent fever episodes. In this group of disorders, a typical infection disease is not clinically observed but an increase in acute phase reactants. PFAPA, hyperIgD syndrome, familial mediterranean fever (FMF), tumor necrosis factor associated periodic syndrome and cryopyrinopathies belong to this group.

Familial Mediterranean Fever (FMF) one of the most common autosomal recessive inherited disorders. Carrier frequency is larger than 1/1000. Symptoms such as recurrent fever, stomach pain, joint pain, chest pain and skin eruptions may occur. Most critical long term risk is renal amyloidosis which causes kidney failure. Colchicine treatment prevents this risk in case with proper diagnosis. Biallelic mutations in MEFV gene is responsible for FMF.

Tumor Necrosis Factor Associated Periodic Syndrome (TRAPS) is an autosomal dominant inherited disease in children and adults. Mutations in TNFRSF1A results in irregular fever episodes which may take days or even weeks. Biological agents are used for its treatment.

FAST-FEVER® Sequencing Kit is a next generation sequence analysis library preparation kit developed to investigate mutations in the MEFV and TNFRSF1A genes for the DNA molecules isolated from blood or tissue. This kit, which was developed to enrich exon 2, 3, 5 and 10 of MEFV and exon 2,3 and 4 of TNFRSF1A gene for the next generation sequence analysis method, achieves this with a single PCR (Polymerase chain reaction) condition and a reaction that is realized in only one tube.

USAGE AREAS

FAST-FEVER® Sequencing Kit is used for the fast, low-cost and reliable diagnosis of two periodic fever syndromes FMF and TRAPS. Accurate determination of the etiology in a patient with these diseases is critical for appropriate treatment selection and proper monitoring. In addition, the identification of the mutations in the MEFV and TNFRSF1A will allow the patient and his family to receive a comprehensive and optimal genetic counselling and will also allow the consideration of options such as prenatal diagnosis and / or preimplantation genetic diagnosis.

TECHNICAL SPECIFICATIONS