NGS Based Kits

Nukleus Sağlık Ürünleri

NGS Based Kits

Cystic fibrosis is an autosomal recessive disorder observed at 2500 live births in many communities. This disease is responsible for the mutations in the gene that encode the cystic fibrosis transmembrane cascade regulation (CFTR) protein, which acts as a chlorine channel. The cells of the pancreas and the lining of the small intestine are called the duodenum. Increased mucus production associated with decreased mucosilary activity causes obstructive lung disease and bacterial infections, resulting in deaths due to respiratory failure, is the main cause of mortality in cystic fibrosis patients. Patients may also experience pancreatic failure due to insufficient digestive enzymes to release. 97-98 percent of men with cystic fibrosis also have azospiermi due to the absence of bilateral congenital Val deferens (CBAVD). In addition, fertility problems may occur in women due to deterioration of the quality of cervical mucus. Approximately 1800 mutations have been identified in the CFTR gene. The size of the CFTR gene (27 encoder season) complicates the molecular diagnosis of the disease.

  • Kistik fibrozis hastalığının doğru ve hızlı bir şekilde taranması son derece sık gözlenen bu hastalığın tanısı için çok önemlidir.
  • Kistik fibrozis hastalığına sahip bireyler solunum sistemi, gastrointestinal sistem ve üreme sistemini ilgilendiren şikayetlerle başvurabilirler.
  • Bu durumlarda kistik fibrozis hastalığının akla gelmesi ve genetik test ile tablonun aydınlatılması oldukça önemlidir.

NGS Based Kits

    Katalog NumarasııM-CF-01 / M-CF-04
    Test Sayısı50 reaksiyon
    Sevkiyat KoşullarıKuru buz ve soğuk zincir ile
    Ana MateryalDNA
    Saklama-20°C
    Sekans TipiNGS
    Uyumlu CihazlarIllumina (MiniSeq, MiSeq, HiSeq, Next-Seq550)
    Oxford Nanopore (MinION, GridION)
    Kit İçeriğiPCR Mix 
    Primer Mix-I 
    Primer Mix-II