HUMEDITロゴ

Gene Checker

Overview

Medicover's testing kits provide a wide range of highly reliable and easy-to-implement genetic testing solutions, offering accurate, rapid, and cost-effective detection of genetic mutations.

The testing kits consist of NGS-based genetic panel testing kits, including reagents for universal library preparation and target capture enrichment workflows covering multiple fields. By running multiple assays in the same sequencing run, assays from all testing kits can be integrated into a unified workflow. Medicover's testing kits offer the uniqueness of performing multi-field genetic testing simultaneously in one sequencing run, ensuring accurate and rapid detection of genetic mutations while enhancing cost and operational efficiency in labs of all throughput capabilities.

Manufactured under strict quality control processes (ISO 13485:2016 and ISO 9001:2015), the testing kits are library preparation and enrichment kits with guaranteed highest quality, intended for the identification of genetic mutations associated with diseases.

Running Multiple Assays in One Run

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  • Highly assured assays
  • Comprehensive genetic content providing clinically meaningful information
  • User-friendly and highly reliable workflows and protocols
  • Integration of assays to provide high operational efficiency
  • Comprehensive system including software solutions and result reporting

Specifications and Features

  • Common protocol for all assays
  • Simplified and streamlined workflow
  • Common sample requirements
  • Compatibility with automation
  • Compatibility with laboratories of all throughputs
  • Sample types: Oral swab (except for PGT: polar body or blastocyst biopsy)
  • Uniformity of average coverage ≥ 20x: >97%
  • Proprietary bioinformatics pipeline
  • Proprietary dual indexing compatible with all testing kits

Assay Menu

Medicover's testing kits provide a unique and efficient solution for conducting multi-field genetic testing within your organization, catering to labs of all throughputs. By combining various assays in one sequencing run, it's possible to shorten turnaround times and reduce operational costs while ensuring high-quality results. Our comprehensive testing approach is ideal for labs looking to offer a wide range of reliable genetic tests to healthcare professionals and patients.

The testing kits cover the following areas:

Oncology

Postnatal Testing

Neonatal

Reproductive Health

Preimplantation Genetic Testing (PGT)

Target Diseases for Genetic Testing

Carrier Core Kit

Career Comprehensive Kit

Hereditary Cancer Kit

Infertility Kit

Newborn Screening Kit

Cardiomyopathy Kit

Arrhythmia Kit

Aortic Disorders Kit

Congenital Heart Defects Kit

FH, PH, RASopathies Kit

Metabolic Kit

Kits

Carrier Screening Core kit
Analyzes 19 genes of individuals with unknown carrier status.
Carrier Screening Comprehensive kit
Analyzes 228 genes of individuals with unknown carrier status.
PGT kit
Enables detection of all chromosome aneuploidies, structural abnormalities up to 10Mb, several types of Y chromosome aneuploidies, and mosaicisms exceeding 50%.
Hereditary Cancer Kit
Analyzes 62 genes covering 24 cancer predisposition syndromes associated with hereditary tumors.
Infertility Kit
Analyses 54 genes in the female infertility panel, 39 genes in the male infertility panel, including both structural and numerical abnormalities of sex chromosomes.
Neonatal kit
Analyses 140 genes for symptomatic and pre-symptomatic infants.
Cardiac Comprehensive Kit
Analyses 292 genes covering major hereditary cardiovascular diseases.
Cardiomyopathy Kit
Analyses 98 genes covering hereditary cardiovascular diseases associated with cardiomyopathy.
Arrhythmia Kit
Analyses 42 genes covering hereditary cardiovascular disorders related to arrhythmias.
Aortopathy
Analyses 48 genes covering hereditary cardiovascular diseases associated with aortopathy.
Congenital Heart Defects Kit
Analyses 80 genes covering congenital heart defects.
FH, PH, RAS
Analyzes 11 genes for Familial Hypercholesterolemia (FH), 11 genes for Pulmonary Hypertension (PH), and 30 genes for RASopathies (RAS).
Metabolic Kit
Analyses 223 genes covering major classes of hereditary metabolic disorders.
UltraVerse Index Oligos Type A/B/C/D
Contains proprietary dual index oligos compatible with all test kits.

Each test kit contains reagents for 16 reactions with a maximum of 384 multiplexing capabilities (4 x 96 index kits).
Each UltraVerse Index Oligos kit contains 96 reactions.

Proprietary Software Solutions

Workflow

SIRIUS

SIRIUS is a data management web application that enables user management of information generated by NGS analysis when processing samples using the workflow of the test kit. Additionally, SIRIUS facilitates the creation, computation, and editing of sample batches required for sequencing and collaborates with Medicover Genetics' analysis engine, VEGA, to provide information about analysis data in visual graphs and tabular formats.

VEGA

VEGA is a bioinformatics analysis software for samples processed using the test kit. VEGA analyzes NGS data generated by the genetic testing workflow. This analysis detects single nucleotide variants, short insertions or deletions, and changes in copy number. In PGT analysis, aneuploidy and structural abnormalities are detected.

Contact Us

If you have any other questions or concerns, please feel free to contact us via the Contact Form.