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