NGS – Next-generation sequencing

Nova Group Investment oferă un portofoliu complex de biblioteci pentru secventiere și kituri multiplex, menite să sporească sensibilitatea, flexibilitatea și viteza de pregătire a librariilor pentru platformele de secventiere Illumina® și Ion Torrent®.

Sutn disponibile urmatoarele paneluri de ampliconi:

Cancer si predispozitie la cancer

  • BRCA 1/2 BRCA1, BRCA2
  • BRCA1/2 Plus-1 BRCA1, BRCA2, PALB2, CHEK2
  • CEBPA CEBPA
  • Hereditary Breast and Ovarian Cancer (HBOC) – 1 RAD51D, RAD51C, BRIP1
  • HBOC-3 PALB2, BARD1, TP53
  • Colorectal Cancer 1 MLH1, MSH2
  • Colorectal Cancer 2 MSH6, PMS2
  • Myeloid 21 hotspots
  • TP53 TP53
  • BRCA 1/2 FFPE BRCA1, BRCA2
  • TP53 FFPE TP53

Sindroame ereditare și metabolice

  • Cardiovascular Disease 24 hotspots
  • Congenital Hyperinsulinism ABCC8, GLUD1, KCNJ11, GCK
  • Epilepsy 1 SCN1A, SCN1B, GABRG2
  • Epilepsy 2 SCN2A, SCN9A
  • Impaired Hearing GJB2, GJB6
  • MODY Set 1 GCK, HNF1A
  • MODY Set 2 HNF1B, HNF4A
  • MODY Set 3 KLF11, NEUROD1, CEL, PDX1
  • MODY Set 4 PAX4, INS, BLK
  • MODY Set 5 (Set 1 + Set 2) GCK, HNF1A, HNF1B, HNF4A
  • Obesity 1 LEP, LEPR, MC4R, POMC
  • Obesity 2 KSR2, SH2B1, SIM1
  • Mediterranean Fever MEFV
  • Periodic Fever 1 TNFRSF1A, NLRP3, MVK
  • Periodic Fever 2 PSTPIP1, LPIN2, ELANE

Screeningul nou-născuților și infertilitatea

  • Autism Spectrum Disorder PDE8B, EN2, NLGN4X, CDKL5, NLGN3, MECP2, RPL10
  • Congenital Adrenal Hyperplasia CYP21A2
  • Cystic Fibrosis CFTR
  • Duchenne Muscular Dystrophy DMD
  • Lysosomal Storage Disorder SUMF1, GLB1, IDUA, ARSB, GUSB, SMPD1, GALC, GALNS, GAA, GLA,
  • Marfan Syndrome FBN1
  • Nephrotic Syndrome 1 NPHS1, NPHS2, WT1
  • Nephrotic Syndrome 2 ARHGDIA, DGKE, LAMB2, PLCE1
  • Neuronal Ceroid Lipofuscinoses CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1
  • Neurofibromatosis NF1, NF2
  • Phenylketonuria PAH
  • Thalassemia (coming soon) HBB, HBA1, HBA2
  • Female Infertility FSHB, FSHR, LHB, LHCGR
  • Male Infertility AR, CATSPER1, CFTR, FSHR, LHCGR