NGS

The term Next Generation Sequencing refers to a range of technologies that allow large genomes or defined targets to be sequenced in a time frame ranging from a few days to weeks.

Panels for the study of multiple gene mutations of interest and related running tools.

Thanks to the technique of DNA sequencing, which allows us to determine the order of the nitrogenous bases, we are able to "read" the genetic code. Knowledge of the exact order of the nucleotide sequences of a DNA molecule has many applications, for example, it is indispensable for basic biological research and in a variety of application fields such as diagnostics, biotechnology, forensic science, and personalized medicine. NGS, unlike traditional Generation I methods in which only one fragment caǹ be sequenced at a time, allows the process to be extended to many fragments at once, which are sequenced in parallel and rapidly. For this reason it is also called high-throughput sequencing.

Products

01

Essential

Amoy

AmoyDx Essential NGS Panel is a simple and comprehensive solution for lung and colorectal cancer. It allows identification of both mutations such as SNV, Indel, CNV and fusions. Leverages ddCAP capture technology for increased sensitivity on liquid biopsy as well as tissue.

10 driver genes: Includes 5 biomarkers recognized as Companion Diagnostic

Allows detection of SNVs, Indel, Mergers and CNVs.
High sensitivity on both tissue (1% MAF) and liquid biopsy (0.3% MAF).

Essential NGS Panel

It is based on ddCAP (dual direction probe) technology for 10 driver genes with high accuracy on all types of samples from FFPE, non-FFPE, blood.
SNV/InDel/Fusion/CNV.

- Proprietary technology: ddCAP
- Target regions: 10 driver genes (EGFR, ALK, ROS1, RET, KRAS, NRAS, PIK3CA, BRAF, HER2,MET)
- Sample type: fresh-frozen tissue/FFPE , cfDNA
- NA Requirement: fresh tissue/FFPE > 100ng, cfDNA > 10ng
LoD: 1% MAF on tissue, 0.3% on cfDNA
Data Output per sample: 1 Gb
TAT for library preparation: 2 days
Hands-on time: 4h
Sequence type: PE150
Effective sequencing depth FFPE DNA: > 500x ; Plasma cf DNA: > 1,500x

AmoyDx® Essential NGS Panel
24 tests

02

Classic

Amoy

Amoy Classic Panel is an oncology panel that analyzes 40 target genes in addition to MSI from FFPE with 2% sensitivity allowing clinical therapy setting. A unique feature of the kit is the ability to analyze DNA and RNA simultaneously in the same library.
All-in-one: SNV detection, Indel, Fusion, CNV, MSI, simultaneously in the same library.

HANDLE Classic NGS Panel

The test is based on HANDLE technology to multiplex targets in more than 30 driver genes including several novel biomarkers such as NTRK1-3, FGFR1-3, MSI (does not need to use unmutated tissue as a control).
In the same SNV/InDel/Fusion/CNV/MSI test.

- Proprietary Technology: HANDLE
- All in one: SNV, Indel, fusion, CNV, MSI (CNV and MSI fabric only)
- Sample Type: Fabric
- NA Requirement:
DNA 50-100ng
RNA > 30ng
- LoD: 1% allele frequency, minimum tumor content 20%.
-TAT library preparation: 5-6h
- Hanh-on time: 1h
- Target region size: 30 kbp
- Sequence type: PE150
- Sequencing depth: >5000X
- Amplicon length: 80-200 bp

AmoyDx® HANDLE Classic NGS Panel

03

Comprehensive

Amoy

Pan-cancer solution capable of analyzing SNVs, InDels, fusion genes and SNPs in specific genes (such as UGT1A1, DPYD, ABCB1 etc.), totaling 128 genes (including microsatellite instability).
Why choose the Comprehensive kit:
1) Generic Risk Analysis: genes related to Lynch syndrome (EPCAM, MLH1, MSH6, PMS2), plus BRCA1/2, APC, VHL
2) Immunotherapy: MSI (+ than 50 sites), Positive genes: POLE, POLD1..., Negative genes: STK11, JAK1/2
3) Target Therapy: genotyping of genes and related prognostic genes, therapy-related genes for the best therapeutic focus
4) Molecular diagnosis for drug-toxicity reduction
5) SNPs detection for chemotherapy indication.
6) ddCAP technology: bidirectional probes to increase coverage and efficiency: ideal for liquid biopsy
7) UMI (unique molecular index) for correction of sequencing errors.

128 genes in one test. FFPE and ctDNA in the same session

AmoyDx Comprehensive NGS Panel (128 genes)

-Tests per package: 24 tests/kit (maximum 24 tissue samples or 12 plasma samples per kit)
-Target Regions: 128 genes and MSI.
-Alterations Detected: SNV, Indel, Fusion, CNV, SNP, MSI (CNV and MSI only for tissue)
-Sample type: FFPE, CF-DNA plasma
-NA Requirement:
FFPE DNA: optimal 100ng (minimum 50ng)
Plasma cfDNA: optimal 30ng (minimum 10ng)
-LoD:
FFPE DNA: 5% allele frequency; 20% tumor content
Plasma cfDNA: 0.5% allele frequency
- Data output per sample:
FFPE DNA: 1.5 Gb/sample
Plasma cfDNA: 8 Gb/sample
- Sequencing type: PE150
- Sequencers: illuminate NextSeq 500, NovaSeq 6,000
TAT for library preparation: 2 days (hands- on time 4h)
TAT from sample to result: 5 days

AmoyDx®Comprehensive NGS Panel
24 tests

04

BRCA1/2

Amoy

BRCA1 and BRCA2 genes are responsible for regulating DNA repair mechanisms, and if mutated, they can lose their controlling function and be responsible for the subject's hereditary predisposition to the development of detemined types of cancer.
Their contribution is particularly relevant in cancers such as breast, ovary, prostate, and pancreas that benefit from PARPi therapies.
These genes play a key role in the HRR homologous recombination pathway.
Coverage of all coding exons, exon/intron splice regions, some introns and large rearrangements (LRs), of BRCA1/2 genes.

In drafting germinal and somatic session
Ability to choose depth of analysis for somatic: 2% or 5% MAF

Use of UID: Unique molecular index (UID) is introduced at both ends of each DNA fragment to increase the accuracy of the test. Bioinformatics software filters out read errors and duplicate PCR products.

Germinal and Somatic in the same session

BRCA1 and BRCA2

BRCA1and2 play a key role in the HRR Homologous Recombinant Repair pathway. Mutation of these genes increases the risk of developing breast, ovarian, pancreatic, and prostate cancer. These patients can benefit from
ADP-ribose polymerase inhibitor (PARPi) therapy and platinum-containing therapies. Several PARPi have been approved for patients with germline mutations.

-Proprietary technology: HANDLE workflow from a single tube
- Alterations detected: SNV, CNV, Indel (somatic/germinal), LR (germinal for BRCA1/2)
- Sample type: fresh-frozen tissue/FFPE, whole blood
- NA Requirement: FFPE: > 30-100ng
- Whole blood: 10-50ng
LoD 2% MAF somatic variants
- Data Output per sample: 0.35 Gb for germline variants; 0.7 Gb for somatic variants
- Reading depth: 15,000X somatic
3,000X germinal
- Sequencing type: PE150bp
- Hands-on-time: <1h
- Amplicon length: 260-400bp

AmoyDx® BRCA1 and BRCA2 Gene
24 tests

05

HRR

Amoy

Alteration analysis related to genes involved in the repair mechanism of homologous recombination-a process that allows the damaged strand to abruptly divert copying to the completely healthy strand and, thus, to derive missing or altered information from it.

A fundamental mechanism for cell stability.

Analysis of genes involved in the homologous recombination pathway is of fundamental importance for cancers such as ovarian, breast, pancreatic, and prostate and for setting up PARPi therapy.
AmoyDX HANDLE HRR allows 27 targets to be analyzed simultaneously, including 20 HRR genes, and to detect 26 mutations related to chemotherapeutics.

Detection of genes involved in the homologous recombination pathway

HANDLE HRR NGS Panel

The homologous recombination repair (HRR) pathway plays an important role in double-strand breakage, which is the main cause of cancer development.
It has been shown that loss of function of HRR genes (e.g., BRCA1, BRCA2, PALB2) and Homologous Recombination Deficiency (HRD) will cause a higher risk of developing cancer, and Patients with HRR gene mutations have shown a greater response to Parpi therapies
And containing platinum.

- Proprietary Technology: HANDLE
- Target regions: 27 HRR genes: coding regions and boundaries
intron-exon
- 5 driver genes (BRAF, ERBB2, KRAS, NRAS,
PIK3CA): hotspot regions.
- Alterations detected: SNV, Indel (somatic/
germinal),
LR (germinal for BRCA1/2)
-Type of sample:
Fresh-frozen/FFPE fabric,
whole blood
- NA Requirement:
Fresh fabric/FFPE ≥30ng
Whole blood ≥20ng
- LoD: 5% MAF for somatic variants;
20% minimum tumor content
- Data Output per sample
0.35 Gb pr germline variants
0.7 Gb for somatic variants
- Target region size: 95 kbp
- Amplicon length: 80-240bp
- Sequence type: PE150
- TAT for Library Prep. 5h
- Hands-on time <1h - Sequencing depth:>1000X

AmoyDx® HANDLE HRR NGS Panel
24 tests

06

HRD Focus

Amoy

Serous ovarian carcinoma (HGSOC) and sensitivity to platinum-containing chemotherapeutic drugs.
Chromosomal instability results in a deficiency of the homologous recombination repair pathway. This deficit is defined by a score obtained from in-depth analysis of several targets scattered throughout the genome.
The definition of this score plays a key role in the drug therapy of BRCA 1- and 2-negative subjects.
In addition to serous ovarian carcinoma, HRD plays a very important role in cancers such as breast, pancreas, and prostate, and its study has paved the way for new therapies for these patients.
AmoyDX HRD Focus analyzes SNV & InDel in whole coding regions and intron/exon boundaries of BRCA 1 and 2 and determines n "Genomic Score" by examining 24,000 genome-wide SNPs.

Unique diagnostic test of its kind to be available in the laboratory

AmoyDx HRD Focus (BRCA1/2+GSS) BRCA1, BRCA2 and ~24,000 SNPs

- Homologous recombination defect
- Serous ovarian carcinoma (HGSOC) and sensitivity to platinum-containing chemotherapy drugs
- I Detection of SNV & indel in whole coding regions and intron/exon boundaries of BRCA1/2
- II Genomic Scar Score (GSS) determination using ~24,000 genome-wide SNPs (~1 SNP/100 kb)
- HANDLE technology (workflow from a single tube)
- Quick and easy to use
- CE-IVD Solution
- Thorough evaluation before parpi-therapy (BRCA1/2) + - Determination
- Proprietary Technology: HANDLE
- Target Regions: BRCA1/2
(gene coding regions
BRCA1/2, intron-exon boundaries)
And ~24000 SNPs along the entire genome
- Alterations detected: BRCA1/2 (SNV, Indel)
and genomic scar score (GSS)
- Sample type: FFPE
- NA Requirement: FFPE: 50 ng
- LoD 5% MAF for SNVs/Indels; minimum
30% tumor content
- Data Output per sample: 4Gbp
- Sequencing type: PE150
- TAT for Library Preparation: 5h
- Hands-on-time 1h

AmoyDx® HRD Focus (BRCA1/2+GSS) NGS Panel
24 tests

07

ANDAS Data Analyzer

Amoy

ON-PREMISES SERVER FOR DATA ANALYSIS
Pipelines always up-to-date and remotely available for fast and autonomous data analysis. No need for data upload to iCLOUD.
You can view, process, store everything locally. The server can be connected to Illumina platforms, the lab server, or be maintained stand-alone.

Pipelines always up-to-date and remotely available

Proprietary interpretation software

Automatic sequence QC
Report exportable to Excel and PDF with immediate indication of all references to research databases and pubmed

AmoyDx® Andas software

Brand in evidence