4Base

4Base

Advanced NGS Panel for pharmacogenetics, reproductive genetics and oncology

Full workflow for Illumina & Ion Torrent NGS Platforms
Kit ID CLINICAL APPLICATIONS TARGETS SAMPLES TYPE
Profiling of HotSpots somatic mutations (SNPs, indel) in cancer tissues LUNG panel NSCLC treatment EGFR (exons 18, 19, 20, 21) KRAS (exons 2, 3, 4) Tumor DNA tissue (fresh, frozen, FFPE, FNA, ecc.)-Somatic analysis (SNPs, indel)
COLON panel mCRC treatment KRAS (exons 2, 3, 4) NRAS (exons 2, 3, 4) BRAF (exon 15)
BENKit panel MultiCancers treatment KRAS (exons 2, 3, 4) NRAS (exons 2, 3, 4) BRAF (exon 11, 15) EGFR (exons 18, 19, 20, 21) PIK3CA (exons 10, 21)
THYRO-ID panel Mutations profi ling of Papillary Thyroid Carcinoma KRAS (exons 2-4) NRAS (exons 2-4) HRAS (exons 2-3) BRAF (exon 15) TP53 (exons 4-9) NOTCH1 (exons 26-27) PTEN (exons 5-8) CDKN2A (exons 1-2) EGFR (exons 18-21) AKT1 (exon 1) CTNNB1 (exon 1) PIK3CA (exons 10, 21) TSHR (exons 6, 8, 9) hTERT (promoter)
Full gene sequencing (all CDS + flanking regions) for germline and/or somatic analysis BRaCA Screen Hereditary and Somatic Variants profi ling in Breast and Ovary cancer BRCA1, BRCA2, TP53 Tumor DNA tissue (fresh, frozen, FFPE, FNA, ecc.) or other (blood) – Somatic analysis (SNPs, indel) Germinal analysis (SNPs, indel, CNV)
HECO Screen* Germline Variants profiling in Hereditary nonpolyposis colorectal cancer (HNPCC) APC, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, STK11 DNA from body tissues (blood or other) – Germline analysis (SNPs, indel, CNV)
BRaVO Screen* Germline Variants profiling in Hereditary Breast and Ovarian Cancer Syndrome (HBOC) ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
HEVA Screen Hereditary Variants profi ling in Breast and Ovary and other cancer-related diseases ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53
CFTR screen* Cystic fibrosis CFTR
NEPHI screen Neurofibromatosis NF1, SPRED1 NF2, LZTR1, SMARCB1
IVF screen* Hereditary Variants profiling in genetic-related diseases BDNF, BCHE, ATM, HBB, BLM, ASPA, CHM, GLA, MEFV, FANCC, G6PC, GALT, GBA, GCDH, GJB2, OTOF, PJVK (DFNB59), HFE2, FPN1, HFE, TFR2, ALDOB, RS1, GALC, GLB1, IDUA, SMPD1, NPC2, NPC1, NBN, FSHR, PAH, PKD2, PKHD1, GAA, M2/ANXA5, ELP1 (IKAP), DHCR7, EPB42, ANK1, HEXA, MPL, MTHFR, FV-Leiden, Prothrobin (F2), APoE, PAI, TH, ATP7B, PEX1, AZFa, AZFb, AZFc, MUTYH, BRCA2, BRCA1, APC, SMN2, SMN1, , F13A1, CFTR, DMD
Extended screening of cDNA fusion transcripts FUSION screen Fusion transcripts and expression imbalances between the 3′ and 5′ regions of the genes related with Lung cancers EML4, ALK, ROS1, RET FFPE RNA samples

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