Hematology

New Generation Squencing Solutions

Next Generation Sequencing in Hereditary Hematological Diseases

Hematological diseases; It covers a wide group from anemia to thalassemia, from autoimmune diseases to myeloproliferative and metabolic diseases. Most diseases have a genetic basis, and many single gene diseases are also known today.

Next-generation sequencing can be used in the diagnosis in hematological diseases such as:

Fanconi Anemia
Hemorrhagic Malignancies
Hereditary Erythrocytosis / Polycythemia
Hemolytic Anemia
Bone Marrow Failure

Hematological Oncology New Generation Sequencing Panels

ArcherDx Technology

ArcherDX produces solutions for solid tumors and hematological oncology in order to provide advanced genomic analysis with accurate and sensitive methods in cancer samples. Anchored Multiplex PCR (AMP™) chemistry used in ArcherDX solutions, using bidirectional primers and molecular barcodes (MBC), can accurately detect simple and complex genetic mutations from low nucleic acid materials obtained from FFPE, fresh tissue and blood samples with Next Generation Sequencing (NGS) method. designed to detect. With its flexible structure, AMP chemistry allows DNA, RNA and ctDNA sequencing in different tumor types. DNA-based panels target SNV, Indel, and CNV variant strains, while RNA-based panels detect fusion (translocation) and expression. *

The obtained data is processed on the ArcherDX analysis platform designed by ArcherDX experts and presented to the clinician.

*In RNA-based panel content, point mutation can be determined for selected genes if specified in the document containing the kit details.

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ArcherDx Technology

DNA BASED PANELS

VariantPlex® Core Myeloid - 37 Gen - ArcherDx

VariantPlex® Myeloid -75 Gen - ArcherDx

AML Focus Panel - 13 Gen – ArcherDx

RNA BASED PANELS

SOPHiA GENETICS Technology

SOPHiA GENETICS provides services in the fields of radiology, genomics and clinical research by using its mathematical data processing expertise in life sciences and medical fields. He offers clinical-level solutions to experts in the field of genomics to accurately detect and interpret genomic variants in cancer and hereditary diseases. Next-Generation Sequencing (NGS) solutions include targeted panel designs from exome coverage to clinical exome and from there to hereditary disease and oncology solutions. SOPHiA offers the SOPHiA DDM platform to help clinicians diagnose, annotate and pre-classify genomic variants more effectively, and support clinicians at every step of comprehensive studies with capture-based working kits.

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SOPHiA GENETICS Technology

Myeloid Solution Panel - 30 Gen (DNA)

Myeloid Plus Solution Panel - 30 Gen (DNA & RNA)

Real-Time PCR (RT-PCR) Solutions

Facilitate mutation detection from DNA samples in genes associated with hematological malignancies with AmoyDx kits that provide short workflow and contain mutation-specific amplification primers.

JAK2 Mutation Detection Kit

AmoyDx's CE-IVD certified JAK2 mutation kit contains the aJAK2 V617F mutation-specific primers and appropriate fluorescent probes that target low copy numbers (1%) mutant DNA in cancer tissues and the aJAK2 V617F mutation.

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C-KIT Mutation Detection Kit

AmoyDx C-KIT mutation detection kit is designed to detect mutations in DNA samples with patented mutation specific amplification technology. The kit provides high sensitivity and specificity for the detection of D816V mutations in the C-KIT gene.

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Droplet Digital PCR Solutions (ddPCR)

Droplet Digital PCR technology is a digital PCR method that uses a water-oil emulsion droplet system. With a special microfluidic system, 1 PCR reaction is divided into 20,000 droplets, and separate PCR reactions take place in each droplet.

With ddPCR technology, the absolute copy number of target DNA and RNA molecules is obtained without the use of standard curves and references. The use of ddPCR in clinical diagnosis, especially in the field of oncology, gains importance thanks to the results with high accuracy and sensitivity that cannot be obtained with the traditional PCR method.

Mutations with a low variant fraction can be detected in hematological malignancies without the need to use a tumor-specific standard curve in the determination of minimal residual disease.

ddPCR Technology

QXDx BCR-ABL %IS Kit (IVD/CE-IVD)

Molecular Response Tracking with Droplet Digital PCR (ddPCR™) Technology

The Bio-Rad BCR-ABL assay is a digital PCR assay used to monitor p210 BCR-ABL translocation in patients with Chronic Myeloid Leukemia (CML). Working with the Bio-Rad QXDx Droplet Digital PCR System, this assay provides highly sensitive and accurate quantification of nucleic acids.

Kit Features:

Absolute quantification: Eliminates the need for standard curves.

High sensitivity and accuracy: High sensitivity with 2/4 wells per sample

Simple and scalable workflow: flexibility to work with 8 – 48 samples

Standardized output: Direct reporting of International Scale (%IS) and Molecular Response (MR) values