Neonatal Screeningfor SMA, XLA and SCID


SPOT-it TREC, KREC & SMN1Kit for the screening of SMA (Spinal Muscular Atrophy), SCID (Severe Combined Immunodeficiency) and XLA (Agammaglobulinemia)With DNA extraction includedWith patented and optimized automation system even for small laboratories and low sample numbers.

SPOT-it TREC & SMN1 Screening Kit

SMA - SCID - XLA - BDS - CE-IVD TREC - KREC- SMN1

The CE IVD kit is intended for simultaneous screening for Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) in newborns. SCID screening is performed by semi-quantification of T-cell receptor excision circle (TREC) and SMA screening by a qualitative detection of exon 7 of the SMN1 gene. DNA is extracted from fresh, dried blood spots (DBS) sampled on filter paper. The SPOT-it Screening Kit use qPCR where target DNA sequences are amplified by cycling between different temperature steps and where the amplification is monitored during each cycle using a fluorescent reporter.

  • Markers: TREC, SMN1 and Beta-actin (ACTB)
  • Specificity: SCID Screening 99,57% - SMA Screening 100%
  • Sensitivity: SCID Screening 100% - SMA Screening 100%
  • Format:
  • 1-2020-TS: Reagents for 82 samples in one 96-well plate (12 standard, 82 sample and 2 control card wells)
  • 12-2020-TS: Reagents for 984 samples in twelve 96-well plates (12 standard, 82 sample and 2 control card wells per plate).
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SPOT-it TREC, KREC & SMN1 Screening Kit

SMA - SCID - XLA - BDS - CE-IVD TREC - KREC- SMN1

The CE IVD kit is intended for newborn screening for severe combined immunodeficiency (SCID), agammaglobulinemia (XLA) and Spinal Muscular Atrophy (SMA) in newborns. SCID screening is performed by semi-quantification of T-cell receptor excision circle (TREC), XLA screening by kappa-deleting recombination excision circles (KREC) and SMA screening by a qualitative detection of exon 7 of the SMN1 gene. DNA is extracted from fresh, dried blood spots (DBS) sampled on filter paper. The SPOT-it Screening Kit use qPCR where target DNA sequences are amplified by cycling between different temperature steps and where the amplification is monitored during each cycle using a fluorescent reporter.

  • Markers: TREC, KREC and SMN1
  • Specificity: SCID Screening 99,57% - XLA Screening 99% - SMA Screening 100%
  • Sensitivity: SCID Screening 100% - XLA Screening 99% -SMA Screening 100%
  • Format:
  • 1-2020-TKS: Reagents for 82 samples in one 96-well plate (12 standard, 82 sample and 2 control card wells)
  • 12-2020-TKS: Reagents for 984 samples in twelve 96-well plates (12 standard, 82 sample and 2 control card wells per plate).
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Fungi


Thanks to many years of experience in medical diagnostics, we market and distribute innovations in fungal, bacterial and viral diagnostics to the healthcare sector.

Our rapid diagnostic tests are highly reliable and fit perfectly into current treatments. They can reduce the rate of drug-resistant infections by promoting a new guided diagnostic approach. This is achieved while offering clear economic and clinical benefits to hospitals, doctors and patients. Also, we are studying and developing a new diagnostic-driven approach to addressing fungal infections.

diagnosi fungina - Fungal diagnostics

CandID

Diagnosi Fungina - Fungal diagnostics, Candida mannan, albicans, glabrata, parapsilosis, krusei, dubliniensis, tropicalis, sepsis

qPCR multiplex CE IVD test designed to detect the genomic DNA of 6 commonly isolated Candida species; C. albicans, C. glabrata and C. parapsilosis, C. krusei, C. dubliniensis and C. tropicalis. Invasive candidiasis is the most common fungal disease among hospitalized patients in the developed world, with candidemia often cited as the fourth most common blood infection within intensive care units. CandID is validated on fungal cultures and extracts from clinically relevant matrices (plasma and synthetic BAL) and on the most common extraction and Real-Time PCR tools (Rotorgene 6000, Biorad CFX, ABI 7500fastDX, etc).

  • Wide dynamic detection range of at least six orders of magnitude
  • Sensitivity <1 Candida genome.
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AurisID

Infezioni fungine invasive - rapid fungal diagnostics, Candida auris

CE IVD Real-Time PCR test capable of detect Candida auris within 45 minutes of nucleic acid extraction.
Candida auris, a strain of the genus Candida, is a globally emerging multidrug-resistant pathogen that causes nosocomial transmission. Since it was first isolated, C. auris has been associated with blood flow and wound infections globally and has caused hospital outbreaks in several countries. C. auris is commonly resistant to the first-line antifungal drug fluconazole and multidrug-resistant strains have been reported. AurisID has been validated on fungal cultures and clinical blood samples and on the most common extraction and Real-Time PCR tools (Rotorgene 6000, Biorad CFX, ABI 7500fastDX, etc.).

  • Wide dynamic detection range of at least six orders of magnitude
  • Sensitivity of <10 copies of the Candida auris genome.
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AspID

Infezioni fungine invasive - infezioni respiratorie - Respiratory infections, Aspergillus terreus

qPCR multiplex CE IVD test designed to detect the genomic DNA of clinically relevant Aspergillus species. AspID® quickly detects Aspergillus species within 90 minutes of nucleic acid extraction, including specific detection of A.terreus, a fungus inherently resistant to amphotericin B. The AspID® is validated on the following arrays: fungal cultures, broncho-alveolar washing liquid samples, extracts from clinically relevant matrices (BAL and serum) and AsTeC Aspergillus calibrator material and on the most common extraction and Real-Time PCR instruments (Rotorgene 6000, Biorad CFX, ABI 7500fastDX, etc.).

  • Wide dynamic detection range of at least six orders of magnitude
  • Sensitivity of <10 copies of Aspergillus template (equivalent to <1 fungal genome).
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PneumID

infezioni fungine invasive - respiratory infections, Pneumocystis, jirovecii

qPCR multiplex CE IVD test designed to detect the genomic DNA of clinically relevant Pneumocystis jirovecii. PneumID® quickly detects Pneumocystis jirovecii within 45 minutes of nucleic acid extraction. The kit is validated on the following arrays: extracts from clinically relevant matrices (BAL and sputum) and on the most common extraction and Real-Time PCR tools (Rotorgene 6000, Biorad CFX, ABI 7500fastDX, etc.).

  • Wide dynamic detection range of at least six orders of magnitude
  • Sensitivity of a single Pneumocystis genome
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EurobioPlex Dermatophytes

kit diagnostici - diagnostic kit: test batteri, Dermatophytes, Trichophyton, rubrum, violaceum, Trichophyton tonsurans, Trichophyton mentagrophyte, Microsporum Canis, Epidermophyton floccosum

The CE IVD kit uses real-time polymerase chain reaction (PCR) amplification and is designed for the qualitative detection of the six most frequently involved dermatophytes in superficial cutaneous mycosis of the skin, hair and nails (dermatophytes): Trichophyton rubrum/violaceum (undifferentiated detection of these two species), Trichophyton tonsurans, Trichophyton mentagrophyte var. interdigital, Microsporum Canis, and Epidermophyton floccosum, from a DNA extract.

Format: 48 or 96 reactions Validated on:
  • CFX96TM Real Time PCR detection system (Biorad) with analysis on CFX Manager v 3.1 (Biorad)
  • LightCycler®480 Instrument II (Roche) with analysis on LightCycler® 480 software v1.5 (Roche)
  • Limite di rilevazione: tra 0,1 e 5 pg d'ADN /μL
  • Specificità: 99%
  • Sensibilità: 99%
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Bacteria


EurobioPlex Leptospira

kit diagnostici - diagnostic kit: test batteri, Dermatophytes, Trichophyton, rubrum, violaceum, Trichophyton tonsurans, Trichophyton mentagrophyte, Microsporum Canis, Epidermophyton floccosum

The CE IVD kit uses transcription-real time polymerase chain reaction (RT-PCR) amplification and is designed for the qualitative detection of Leptospira by amplification of nucleic acids of this pathogen in a nucleic acid extract. This test is indicated to diagnose the occurrence of infection by Leptospira in humans or complement a proven or indeterminate diagnosis. The EurobioPlex Leptospira has been validated on plasma and urine.

Format: 48 or 96 reactions Validated on:
  • CFX96TM Real Time PCR detection system (Bio-Rad) with analysis on CFX Manager v 3.1 (Bio-Rad)
  • LightCycler®480 Instrument II (Roche) with analysis on LightCycler® 480 software v1.5 (Roche)
  • T-COR 8TM-IVD (Tetracore Inc.) with T-COR 8 SmartCTTM (autov1) Software
  • Limit of detection: 5 copies/μL
  • Specificity: > 99%
  • Sensitivity: > 99%
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Oncology


We are constantly committed to supporting the use of personalized medicine in order to improve clinical decision based on genomic data, thereby increasing the quality of life of people suffering from genetic and oncological diseases.

We offer a wide range of tests using Real-Time PCR, fragment analysis and NGS to meet the diverse needs of laboratories and patients. Our suppliers have years of experience in the field of genetics and oncology and their products are routinely used in prestigious institutions in Europe.

real time pcr, oncologia, test genetici, genetics test

Kit screening BCR-ABL1

real time PCR: leucemia cronica mieloide - BCR, ABL, p210, p190, CML, chronic myeloid leukemia

Qualitative analysis CE IVD Real-Time PCR that detects the presence of the most common variants of the BCR-ABL1 rearrangement (M-BCR-ABL1 (p210) and m-BCR -ABL1 (p190)), and the presence of the ABL1 reference gene.

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Kit screening PML-RARA

kit screening BCR, ABL, p210, p190, CML, chronic myeloid leukemia

CE IVD quality test that allows to determine the presence of the three possible variants (bcr1, bcr2 and bcr3) of the rearrangement t (15, 17) (q22; q21) of PML-RARA in a single PCR reaction.

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Kit MPL

W515L, W515K, MPL gene, myeloproliferative neoplasm - test genetici - genetic test

CE IVD multiplex test that amplifies the W515L (NM_005373.2: c.1544G> T) and W515K (NM_005373.2: c.1543_1544delTGinsAA) mutations in the MPL gene.

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Kit NPM1

CE IVD test, NPM1, acute myeloid leukemia, exon 12, cytogenetics, CN-AML

CE IVD multiplex test that allows to simultaneously amplify the most frequent insertion variants (subtypes A, B and D) in exon 12 of the NPM1 gene.

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Kit CALR

kit test mutazioni genetiche - genetic disease test: CALR, INDEL, exon 9, calreticulin, myeloproliferative neoplasms, MPN

CE IVD qualitative analysis test that evaluates the insertion or deletion mutations (INDEL) in exon 9 of the CALR gene in relation to the size of the amplification fragments obtained.

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Kit FLT3

mutazioni genetiche - genetic mutations: ITD mutations, FLT3, tyrosine kinase 3, acute myeloid leukemia, leucemia mieloide acuta

Qualitative CE IVD analysis test that evaluates the ITD mutations of the FLT3 gene in relation to the size of the amplification fragments obtained.

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Action OncoKitDX

The CE IVD kit is compatible with the following tools: Illumina NextSeq500, Illumina NextSeq2000, Illumina HiSeq, Illumina NovaSeq. The protocol has been validated and automated on the Agilent Magnis library preparation tool.

Characteristics:

  • Dynamic kit that updates the target genes of the panel according to scientific evidence.
  • Detection of SNV and INDEL.
  • Analysis of mergers and rearrangements (SV) related to targeted therapies.
  • Detection of microsatellite instability (MSI).
  • CNV detection of selected genes, as well as losses and gains throughout the genome.
  • Pharmacogenetic analysis associated with the response to chemotherapy treatments.
  • Molecular marking with UMI that increases the sensitivity of bioinformatics analysis.
  • Analysis software included: Data genomics.
  • STID: Integrated sample identification system for traceability.
  • Coverage: 96.2% of the bases covered at a depth of 100X.
  • Uniformity: 95.7% of bases covered at > 20% of median coverage.
  • Sensitivity: > 99%.
  • Specificity: > 99%.
  • The detection limit (LOD) for SV, SNV and INDEL is 5%.
  • The detection limit for CNV is 3 copies for duplications and 1 copy for deletions, provided that the infiltration of the tumor with non-cancer cells is not more than 30%.

Target genes:
SNVs and INDELs: AKT1 *, ALK, ARID1A, ATM, ATRX, BAP1, BRAF, BRCA1, BRCA2, CDH1, CHEK2, CTNNB1, EGFR, ERBB2, ESR1, FGFR1, FGFR4, GNA11, GNAIST1, H3A, HIST1H3A, HIST1H3H, IDH1, IDH2, KIT, KRAS, MAP2K1, MET, MLH1, MSH2, MSH6, MTOR, MYC, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PBRM1, PDGFRA, PIK3CA, PMS2 + 5’UTR, PTEN, POLD1, POLE , RET, ROS1, SDHA, SDHB, SDHD, TERT + 5’UTR, TSC1*, TSC2*, TP53 and VHL.
* Hotspot sequencing
SVs: ALK (intron 19), ATP1B1 (introns 3 and 4), BRAF (introns 7, 8, 9 and 10), EGFR (introns 7, 23, 24 and 25), ETV6 (introns 4 and 5), FGFR2 (intron 17 and 3’UTR region), FGFR3 (intron 17 and 3’UTR region), NTRK1 (introns 8, 9, 10, 11 and 12), NTRK2 (introns 10 and 12), RET (introns 9, 10 and 11 ) and ROS1 (introns 31, 32, 33, 34 and 35).

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Haematology OncoKitDX

Kit CE IVD Illumina, solid tumors test, oncology - test tumori solidi, oncologia

The CE IVD kit is compatible with the following tools: Illumina NextSeq500, Illumina NextSeq2000, Illumina HiSeq, Illumina NovaSeq. The protocol has been validated and automated on the Agilent Magnis library preparation tool.

Characteristics:

  • Dynamic kit that updates the target genes of the panel according to scientific evidence.
  • Detection of SNV and INDEL.
  • It allows the detection of internal tandem duplications (ITD) in FLT3, present in 20-27% of AML.
  • Analysis of mergers and rearrangements (SV) related to targeted therapies and diagnosis of entities recognized by the WHO.
  • CNV detection of selected genes, as well as losses and gains throughout the genome, allowing the detection of alterations such as hypo and hyperploidy, gains or losses of complete chromosomes (+8, -7, -17) or chromosomal regions (5q, 7q, 11q), for example.
  • Pharmacogenetic analysis associated with response to chemotherapy treatments and offering optional guidance for dose adjustment in each case.
  • Molecular marking with UMI that increases the sensitivity of bioinformatics analysis.
  • Analysis software included: Data genomics.
  • STID: Integrated sample identification system for traceability.
  • Coverage: 96,3% of the bases covered at a depth of 100X.
  • Uniformity: 98,4% of bases covered at > 20% of average coverage.
  • Sensitivity: > 99%.
  • Specificity: > 99%.
  • The detection limit (LOD) for SV, SNV and INDEL is 2%.
  • The limit of detectability of CNVs, compared to total copies of a sample, has been set at 20% in case of loss and 10% for gains from copying.

Target genes:
SNVs and INDELs: ARID5B, ASXL1, ASXL2, ATRX, BCOR, BCORL1, BLNK, BRAF, CALR, CBL, CDKN2A, CDKN2B, CEBPA, CHIC2, CREBBP, CRLF2, CSF3R, CSNK1A1, CUX1, DDX41, DNT300, DDT300, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2 (and intron 4), GATA3, HAVCR2, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KIT, KMT2A, KMT2C, KFRAS1, KFRAS1, MPL, NFE2, NOTCH1, NPM1, NR3C1, NRAS, P2RY8, PAX5, PHF6, PIGA, PPM1D, PTEN, PTK2B, PTPN11, RAD21, RB1, RUNX1, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRP72, STAG1B2, STAG1B2, STAG1B2 , TET2, TP53, TYK2, U2AF1, WT1, ZRSR2.
SVs: ABL1  (5’UTR region, introns 1, 2 and 3),  ABL2  (introns 3, 4 and 5), BCR (introns 6, 13, 14, 15 and 19),  CBFA2T3  (introns 10 and 11 and region 3 ‘UTR),  CBFB  (intron 5),  CSF1R  (intron 11 and 13),  EPOR  (intron 7 and CDS exon 8),  ETV6  (introns 2, 3, 4 and 5),  FGFR1  (introns 7, 8, 9 and 10 ),  FUS  (introns 5, 6, 7, 8, 9, 11 and 14),  JAK2  (introns 8, 9, 10, 11, 15, 16, 17, 18 and 19),  KMT2A  (introns 6, 7, 8 , 9, 10, 11, 15, 22 and 29),  MEF2D  (introns 5 and 6),  MNX1  (introns 1 and 2), MYH11 (intron 7),  NPM1 (intron 4),  NUP214  (introns 1, 9, 16 and 17),  NUP98  (introns 10, 11, 12, 13 and 14),  PDGFRA  (introns 11 and 12),  PDGFRB  (introns 9, 10, 11 and 12) ,  RARE  (intron 2),  RBM15  (intron 1),  RUNX1  (intron 6),  SET  (intron 7),  STIL  (5’UTR region),  TAL1  (intron 3) and  TCF3  (introns 13, 14, 15, 16 and 17).

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Hereditary OncoKitDX

Kit CE IVD, Illumina, test tumori, tumors test, Oncology, cancer, hereditary

The CE IVD kit is compatible with the following tools: Illumina iSeq, Illumina MiSeq, Illumina NextSeq500, Illumina NextSeq2000, Illumina HiSeq, Illumina NovaSeq. The protocol has been validated and automated on the Agilent Magnis library preparation tool.

Characteristics:

  • Dynamic kit that updates the target genes of the panel according to scientific evidence.
  • Type of mutations analyzed: SNV, INDEL, CNV, ALU and other large insertions
  • Yield: 99,5% of the bases covered at a depth of 50X
  • Uniformity: 99,2% of bases covered at > 20% of average coverage and 90% of bases covered at > 50% of average coverage.
  • Sensibility: > 99,9%
  • Specificity: > 99,9%

Target genes: 50
APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FAM175A (ABRAXAS1), FH, KIF1B, MAX, MEN1, MET, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TM TP53, VHL, XRCC2

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BRCAaccuTest PLUS

The CE IVD kit is intended for the analysis of the BRCA1 and BRCA2 genes using the Next Generation Sequencing Method (NGS), which analyzes genomic DNA derived from blood or FFPE tissue.
It is used in patients with breast and ovarian cancer, patients with HBOC (Hereditary Breast and Ovarian Cancer Syndrome) and for the family history or age of breast cancer incidence.

  • Format: 12 or 24 test
  • Compatible with: Illumina/MiSeq, MiSeq R
  • Analysis software included: CE IVD NGeneAnalysis
  • Coverage: 99,9% of the bases covered at a depth of 200X in germline samples and 99,9% of bases covered at a depth of 1000X in somatic samples
  • Uniformity: 100% of the bases covered at > 20% of the average coverage
  • Sensibility: > 95%
  • Specificity: > 95%
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HEMEaccuTest DNA

Kit CE IVD, test malattie genetiche, genetic disease tests, kit diagnostici

The CE IVD kit is intended for molecular genetic test of multiple genes related hematologic malignancy as Acute myeloid leukemia, acute lymphoid leukemia, myelodysplastic/myeloproliferative neoplasm, multiple myeloma, lymphoma. This kit can qualitatively analyze multiple gene variants in genomic DNA isolated from peripheral blood, bone marrow, and lymph nodes with NGS.

  • Format: 48 or 96 test
  • Compatible with: Illumina/MiSeq, MiSeq Dx
  • Analysis software included: NgeneAnalysis (CE)
  • Limit of Detection: SNV 1% - INDEL 2%
  • Accuracy: PPA 100% - PPV 100%
  • Sensibility: 100%
  • Specificity: 100%

Target genes: 108
ABL1, ABL2, AKT1, ALK, ANKRD26, ASXL1, ATM, BCL2, BCL6, BCOR, BCR, BIRC3, BRAF, CALR, CBFB, CBL, CCND1, CDKN2A, CDKN2B, CEBPA, CREBBP, CRLF2, CSF1R, CSF3R, CXCR4, DDX41, DEK, DHX15, DKC1, DNMT3A, EBF1, EP300, EPOR, ETNK1, ETV6, EZH2, FBXW7, FGFR1, FIP1L1, FLT3,GATA1, GATA2, GATA3, IDH1, IDH2, IKZF1, IKZF2, IKZF3, IL3, IL7R, JAK1, JAK2, JAK3, KDM6A, KIT, KMT2A, KRAS, MECOM, MGA, MKL1, MLLT3, MPL, MTCP1, MYC, MYD88, MYH11, NF1, NOTCH1, NPM1, NRAS, NTRK3, NUP214, PAX5, PBX1, PCM1, PDGFRA, PDGFRB, PHF6, PML, PRPF8, PTPN11, RAD21, RARA, RB1, RBM15, RUNX1, RUNX1T1, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRSF2, STAG2, STAT3, TAL1, TCF3, TERC, TERT, TET2, TLX1, TLX3, TP53, TYK2, U2AF1, WT1, ZBTB7A, ZRSR2.

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HEMEaccuTest RNA

Kit CE IVD, test malattie genetiche, genetic disease tests, kit diagnostici

The RUO kit is intended for comprehensive detection of fusion transcripts and gene expression levels relevant in hematologic malignancies. This test use peripheral blood, bone marrow, and lymph nodes, as an aid in the differential diagnosis of hematologic malignancy.
Ultimately, HEMEaccuTest RNA is for a purpose of appropriate classification and differential diagnosis through qualitative analysis of hematologic malignancy.

  • Format: 48 or 96 test
  • Compatible with: Illumina/MiSeq, MiSeq Dx
  • Analysis software included: NgeneAnalysis (CE)

Target genes: 53:
ABL1, ABL2, BAALC, BCR, CBFB, CCND1, CCND2, CCND3, CRBN, CRLF2, CSF1R, DEK, ETV6, FGFR1, FGFR3, FIP1L1, FUS, GATA2, IGH, IL2RB, IL3, JAK2, KMT2A, MAF, MAFA, MAFB, MECOM, MKL1, MLF1, MLLT3, MYH11, NSD2, NUP214, NUP98, PBX1, PCM1, PDGFRA, PDGFRB, PHB, PHB2, PML, RARA, RBM15, RUNX1, RUNX1T1, TCF3, TYK2, WT1, GUSB*, HBS1L*, HPRT1*, SDHA*, TBP*.
* Genes in bold characters are housekeeping genes

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SOLIDaccuTest DNA

Kit CE IVD, solid tumors, tumori solidi, kit diagnostici - CE-IVD - Real-Time PCR

The CE IVD kit is an excellent tool to explorer variants associated with solid tumors using a comprehensive method of next-generation sequencing (NGS). It reflects the latest research trends and is optimized for the medical purpose by selecting essential genes of solid tumors including lung, colon, breast, skin brain, gastric, ovarian cancers, etc.

  • Format: 48 or 96 test
  • Compatible con: Illumina/MiSeq, MiSeq Dx
  • Analysis software included: NgeneAnalysis (CE)

Target genes: 84
AKT1, ALK, APC, AR, ARAF, ARID1A, ATM, ATRX, BRAF, BRCA1, BRCA2, CCND1, CCNE1, CDH1, CDK4, CDK6, CDKN2A, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, ESR1, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FHFOXA1, GATA3, GNA11, GNAQ, GNAS, H3F3A, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KIT, KRAS, MAP2K1, MDM2, MET, MLH1, MSH2, MSH6, MTOR, MYC, MYCN, NF1, NOTCH1, NRAS, PALB2, PDGFRA, PIK3CA, PIK3R1, PMS2, POLE, PTEN, RAC1, RAF1, RB1, RET, RHOA, RICTOR, RIT1, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMO, SPOP, SRC, STK11, TGFBR2, TP53, TSC1, TSC2, VHL.

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SOLIDaccuTest RNA

Kit CE IVD, solid tumors, tumori solidi, kit diagnostici - CE-IVD - Real-Time PCR

The RUO kit is a cost-effective and beneficial tool to detect gene fusions in multiple types of solid tumors, regardless of origin using a comprehensive method of next-generation sequencing (NGS). In addition, SOLIDaccuTest RNA is designed by selecting major genes of solid tumors including lung, colon, breast, skin, brain, ovarian cancers etc. Therefore, the ultimate purpose of SOLIDaccuTest RNA is detecting fusions in genes related to various solid tumors and providing supportive evidence for the clinical utility of prognosis, diagnosis or therapeutic implications.

  • Format: 48 or 96 test
  • Compatible with: Illumina/MiSeq, MiSeq Dx
  • Analysis software included: NgeneAnalysis (CE)

Target genes: 29
AKT3, ALK, BRAF, CLDN18, EGFR, ERAS, ERG, ESR1, ETV1, ETV4, ETV5, FGFR1, FGFR2, FGFR3, MET, MITF, NRG1, NTRK1, NTRK2, NTRK3, RAF1, RET, ROS1, RSPO2, RSPO3, TFE3, TFEB, BRCA1, BRCA2.

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SOLIDaccuTest DNA HRD

Kit CE IVD, solid tumors, tumori solidi, kit diagnostici - CE-IVD - Real-Time PCR

The RUO kit is an excellent tool to explorer genetic variants associated with solid tumors using a comprehensive method of next-generation sequencing (NGS). It reflects the latest research trends and is optimized for the medical purpose by selecting essential genes of solid tumors including lung, colon, breast, skin, brain, gastric, ovarian cancers etc. Therefore, the ultimate purpose of SOLIDaccuTest DNA HRD is to detect genetic mutations in various solid tumors.

  • Format: 96 test
  • Compatible with: Illumina/MiSeq, MiSeq Dx
  • Analysis software included: NgeneAnalysis (CE)

Target genes: 111
AKT1, ALK, APC, AR, ARAF, ARID1A, ATM, ATR, ATRX, BARD1, BLM, BRAF, BRCA1, BRCA2, BRIP1, CCND1, CCNE1, CDH1, CDK12, CDK4, CDK6, CDKN2A, CHEK2, CTNNB1, DDR2, EGFR, EMSY, ERBB2, ERBB3, ERBB4, ERCC1, ESR1, EZH2, FANCA, FANCD2, FANCF, FANCI, FANCM, FBXW7, FGFR1, FGFR2, FGFR3, FHFOXA1, GATA3, GNA11, GNAQ, GNAS, H3F3A, HRAS, IDH1, IDH2, JAK1, JAK2, JAK3, KIT, KRAS, MADD2LD, MAP2K1, MDM2, MET, MLH1, MRE11, MSH2, MSH6, MTOR, MYC, MYCN, NBN, NF1, NOTCH1, NRAS, PALB2, PDGFRA, PIK3CA, PIK3R1, PMS2, POLE, PTEN, RAC1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAF1, RB1, RBBP8, RET, RHOA, RICTOR, RIT1, SLFN11, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMO, SPOP, SRC, STK11, TGFBR2, TP53, TP53BP1, TSC1, TSC2, VHL, XRCC1, XRCC5, XRCC6.

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ONCOaccuPanel

Kit RUO, diagnostics kit, solid tumors test.

The RUO kit is a comprehensive next-general sequencing panel that can be capable of genomic profiling of solid tumor samples. This product can also support identifying relevant variants related to various solid tumor types including lung, breast, ovarian, brain, colorectal, stomach cancer, etc.
Is a reagent kit that prepares NGS libraries in a capture-based hybridization method that selects and amplifies target genes from genomic DNA extracted from formalin-fixed paraffin embedded (FFPE) tissue or non-FFPE samples. Common variants of 344 genes cancer-related can be evaluated using RNA probes in a single assay. It covers 244 genes of the entire coding exon region, 100 genes of the partial exon/hot spot region, and 14 genes of the intronic region.

  • Format: 30 or 60 runs
  • Compatible with: Illumina/NextSeq, NextSeq550Dx
  • Analysis software included: NgeneAnalysis (CE)
  • Genes: Target Genes: Total of 344 (244 entire coding exon and 100 partial exon/hot spot).

Partial exon/Hot spot region:
A1BG, ABCC5, ACVR2A, ADAMTS18, ADNP, AKAP7, AP1S1, ARV1, ASH1L, BAX, BTK, CASD1, CBL, CBX4, CCDC73, CD3G, CDH26, CEBPZ, CENPV, CIC, CKAP2, CLOCK, COBLL1, CPEB2, DLC1, DNAH12, DOCK3, DPAGT1, DYNC1I2, EBPL EPPK1, FBXL3, FGFBP1, FMN2, FRG2B, FXR1, GRIN3B, GTPBP2, IMPA1, INO80E, IRS1, KCTD16, KLF4, KNSTRN, KRT32 LIPT1, MADCA, M1MAX, MFSD14A, MFSD4B, MVK, MYO1A, NFE2L2, NIPA2, NNAT, NOS3, NUDT7, OR4M2, PABPC1, PCBP1 PCDHB16, PCMTD1, PPP2R1A, PRAMEF11, PREX2, PRIM2, RAC1, RASA4, RBBP8, RGS12, RHOA, RUFY2, SEC63, SF3B1, SLC23A2, SPRR3, SSTR4, STAMBPL1, STAT3, STAU2, SULT6B1, SYNJ2, TAS2R19, TAS2R31, TCF7L2, TEAD2, TMEM60, TMPRSS13, TPSD1, U2AF1, WDR55, WDR87, ZFP37, ZNF141, ZNF563.

Entire coding sequence:
ABL1, ABL2, ABRAXAS1, AKT1, AKT2, AKT3, ALK*, APC, AR, ARAF, ARID1A, ARID1B, ARID2, ASXL1, ATM, ATR, ATRX, AURKA, AURKB, AURKC, AXIN1, AXL, BAP1, BARD1, BRAF*, BRCA1, BRCA2, BRD2, BRD3, BRD4, BRIP1, CBFB, CCND1, CCND2, CCND3, CCNE1, CD274, CDH1, CDK12, CDK4, CDK6, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHEK2, CREBBP, CRIPAK, CSF1R, CTNNB1, DDR1, DDR2, DDX3X, DNMT3A, DOT1L, DPYD, EGFR*, EPHA3, EPHB4, ERBB2, ERBB3, ERBB4, ERCC2, ERCC4, ERG, ERRFI1, ESR1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FNACL, FANCM, FBXW7, FGF4, FGF19, FGFR1, FGFR2, FGFR3, FGFR4, FLCN, FLT1, FLT3, FLT4, FOXL2, FUBP, GATA2, GEN1, GNA11, GNAQ, GNAS, H3F3A, HDAC9, HGF, HLA-A, HLA-B, HLA-C, HLA-DRB1HNF1A, HRAS, IDH1, IDH2, IGF1R, IGF2, JAK1, JAK2, JAK3, KDR, KIT, KMT2A, KRAS, LRP1B, LTK, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K4, MAPK1, MAPK3, MAPK8, MCL1, MDM2, MDM4, MED12, MEN1, MET, MITF, MLH1, MPL, MRE11, MSH2, MSH6, MTAP, MTOR, MYC, MYCN, NBN NF1, NF2, NFKBIA, NKX2-1, NOTCH1, NOTCH2, NOTCH2NL, NOTCH3, NOTCH4, NRAS, NTRK1*, NTRK2, NTRK3, NUTM1, PALB2 PARP1, PBRM1, PDGFB, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PIK3CD, PIK3R1, PIK3R2, PMS2, POLE, PPARG, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51, RAD51C, RAD51D, RAF1, RARA, RB1, RET*, RICTOR, RNF43, ROS1*, RSPO1, RSPO2, RUNX1, SDHA, SDHB, SDHC, SDHD, SETD2, SLX4, SMAD2, SMAD4, SMARCA4, SMARCB1, SMO, SOX2, SOX9, SPOP SRC, STK11, SYK, TERTpromoTtEeTr2, TMPRSS2, TOP1, TOP2A, TP53, TSC1, TSC2, UBE2T, VHL, WT1, XPO1, XRCC2, ZNRF3.
*Include partial intron

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TP53 OncoKitDX

Kit diagnostici CE IVD, Illumina, mutazioni genetiche, DNA, genetic mutation

CE IVD kit that has been designed to identify point mutations and small insertions and deletions withing coding regions, the promoter (5’UTR) and the non-coding part of exon 1 and 2, as well as splice site mutation on the TP53 gene. This kit is optimized to detect germline and somatic mutations in genomic DNA extracted from peripheral blood or tissue biopsies, by conventional multiplex PCR and Next generation sequencing (NGS).

  • Format: 48 test
  • Compatible with: Illumina
  • Coverage: 99,4% of the bases covered with minimum sequencing depth 500X and 98,5% at 1000X
  • Uniform coverage: 100% of amplicons are covered over 20% of the mean coverage
  • Sensitivity and specificity: 99,9%
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Genetics


HLAaccuTest All

Sequenziamento DNA, DNA sequencing, RUO, kit diagnostici, CE IVD - Real-Time PCR

The kit, available IVD and RUO, is a medical device for HLA (human leukocyte antigen) typing that can identify high resolution histocompatibility antigens using next generation sequencing (NGS). HLAaccuTest All for HLA typing using DNA extracted from whole blood can be applicable on organ transplant including hematopoietic stem cell transplant.

  • Format: 24 or 96 test
  • Compatible with: Illumina/MiSeq, MiSeq Dx
  • Analysis software included: EasyHLAanalyzer
  • Clinical validity: 99,7%
  • Accuracy: 100%

Target HLA Locus:
Class I: A, B, C
Class II: DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, DPA1, DPB1

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