| 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) |
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| 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) |
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| 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) |
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| 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) |
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| BRaVO Screen* | Germline Variants profiling in Hereditary Breast and Ovarian Cancer Syndrome (HBOC) |
ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53 |
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| 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 |
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| CFTR screen* | Cystic fibrosis | CFTR | ||
| NEPHI screen | Neurofibromatosis | NF1, SPRED1 NF2, LZTR1, SMARCB1 |
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| 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 |
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| 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 |
