This website uses cookies in order to improve our services. If you proceed visiting this website you accept the usage of cookies. For more info please read our Data Privacy statement.

 

NGS Panels for Screening of Multiple Genetic Disorders


General Genetic Testing | Cardiology Genetics | Epilepsy Genetics | Hematology | Mental Health & Neurogenetics | Metabolism | Mitochondrial Genetics | Muscle Genetics | Ophthalmics | Reprogenetics |Respiratory System | More Genetic Disorder Testing


A number of genetic variations or biomarkers that are related to the occurrence of different hereditary diseases or disorders are known. This website introduces NGS targeted gene panels that are developed in order to investigate different genetic predispositions for multiple diseases and disorders. Dependent on the individual panel the number of sequenced genes vary between several hundred genes up to the transcriptome of the whole human genome.

The different NGS gene panels are applicable for general investigation of a personal genetic predisposition status or for the investigation of specific diseases, syndromes, or categories of diseases. 
NGS targeted gene panels with more specific application fields are listed in the corresponding categories. 


Exome Sequencing - NGS Panels

Clinical Exome

Number of Genes: 4637
Source: Fulgent Diagnostics

Clinical Exome Panel

ApolloGen’s Clinical Exome Panel is designed to cover over 4,800 genes based on the Human Genome Mutation Database, OMIM, and Gene Test. These are genes that have been reported to be associated with human diseases in clinical and scientific researches to date. Comparing to whole genome or exome sequencing, which yields excessive data with many variants of clinical significance uncertainty, clinical exome testing focuses on phenotype-related genes. Note that the Clinical Exome test does not include the sequencing of mitochondrial genes.
Source: ApolloGen

For research use only!

GENETION™ Whole Exome Sequencing

The human exome is the complete collection of regions of the genome that encode protein i.e., all the protein-coding exons of all the protein-coding genes. Whole exome sequencing is the process of selecting and then sequencing these regions of the genome using NGS technology.

Source: Pentacorelab

Ion AmpliSeq™ Exome RDY - IC Kit

The Ion AmpliSeq™ Exome RDY - IC Kit enables the fastest and simplest method of exome enrichment, now even easier with oligo pools for ultra-high multiplex PCR exome enrichment dried down in 96-well plates. With half the number of target amplification pipetting steps compared to the original protocol and the elimination of small pipetting volumes, exome libraries can now be produced with unparalleled ease in less than 6 hours with less than 50 minutes of hands-on time.
Source: Thermo Fisher

Website

LifeTime RareDx test

The LifeTime RareDx test is faster and less expensive than performing multiple individual single gene tests. The sensitivity of the sequencing methodology, based on known coverage statistics, is at least 97% for single nucleotide variants. Sensitivity for small indels is in the same range based on comparison with indel polymorphisms contained within the regions covered by the exome sequence.
Source: Parabase Genomics

Website

SeqCap EZ Exome Kit

The SeqCap EZ Exome Kit v3.0 product covers more than 20,000 genes in the human genome. All the genome coordinates are based on human genome build GRCh37 (hg19).
More than two million oligonucleotide DNA probes capture the target regions. Because the flanking regions of some coding exons and miRNAs are also covered by probes, the total size of the regions covered by probes is 64 Mb.
Source: Roche

Website

xGen® Exome Research Panel

The xGen Exome Research Panel v1.0 consists of 429,826 individually synthesized, and quality controlled xGen Lockdown® Probes—covering 19,396 genes and spanning 39 Mb of the human genome. All probes in the panel are manufactured using GMP standards. Mass spectrometry and OD measurements are taken for each probe to ensure appropriate representation of the correctly manufactured probes in the pool.

Source: IDT


Universal NGS Panels

iGene Personal Health and Disease Risk Panel

The iGene Personal Health and Disease Risk Panel provides an accurate assessment of one’s personal health risks in cardiac diseases, major cancer syndromes, and potential pharmacogenetic reactions to a host of common medications. It provides actionable genetic information to health professionals in determining an individual’s clinical management options. Assessment is based on the most up-to-date clinical research data, the patient’s personal medical history, and genetic testing results.
The iGene Personal Health and Disease Risk Panel includes genes from the following panels: iGene Cancer Panel, iGene Cardiac Panel, and iGene Pharamcogenomics Panel.
Source: ApolloGen

Ion AmpliSeq™ Transcriptome Human Gene Expression Kit

The Ion AmpliSeq™ Transcriptome Human Gene Expression Kit enables the simultaneous measurement of the expression levels of over 20,000 human RefSeq genes in a single assay. Providing the ability to work directly with low input levels of total RNA derived from challenging samples such as formalin-fixed paraffin-embedded (FFPE) tissue or other samples with degraded RNA, the Ion AmpliSeq™ Transcriptome Human Gene Expression Kit is ideal for those interested in obtaining comprehensive, highly sensitive, and easily obtained gene expression measurements from a wide range of RNA sources.
Source: Thermo Fisher

Website

NGS panel for hereditary diseases

This NGS panel targets 552 genes associated with different disorders related to:
- Cardiology
- Dermatology
- Rare diseases
- Endocrinology
- Pharmacogenomics
- Gastroenterology
- Hematology
- Nephrology
- Neurology
- Oncology
- Otorhinolaryngology
- Pediatrics
- Pulmonology/Pneumology
- Human identity
- Dental Medicine
- Reproductive Medicine
- Dysmorphology
- Metabolic Diseases

Source: CGC Genetics

Pan-Ethnic Carrier Screen: Targeted Mutation Panel

This component of the Pan-Ethnic Carrier Screen tests for 690 pathogenic variants in 136 genes, as well as full gene deletion and duplication analysis for 3 genes (CFTR, HBA1, and HBA2) causing autosomal recessive conditions. It is the most extensive carrier screen to date and includes conditions of mobility, developmental delay, visual impairment, hearing loss, intellectual disability, skin irregularities, joint and bone disorders, abnormalities of the nervous system, and numerous metabolic syndromes. None of these conditions has a cure, but some can be well managed with diet or medication (e.g. PKU or biotinidase deficiency). Many of these conditions, however, can result in a shortened lifespan or require continued medical care (e.g. Tay-Sachs disease or cystic fibrosis).
Source: Emory Genetics Laboratory

Recessive genetic diseases (NGS panel)

NGS panel targeting 100 genes associated with disorders related to:

- Cardiology
- Dermatology
- Rare diseases
- Endocrinology
- Pharmacogenomics
- Gastroenterology
- Hematology
- Nephrology
- Neurology
- Obstetrics / Gynecology
- Oncology
- Otorhinolaryngology
- Pediatrics
- Pulmonology/Pneumology
- Human identity
- Dental Medicine
- Reproductive Medicine
- Dysmorphology
- Metabolic Diseases

Source: CGC Genetics

Severe Recessive Childhood Diseases

NGS panel diagnostics in cases of severe recessive childhood diseases (Kingsmore Panel)
The Kingsmore Panel includes analysis of 437 genes, mutations in which cause 448 severe recessive diseases manifesting in childhood. The genes analyzed are chosen and evaluated by experts inter alia according to the recommendations of the American College of Medical Genetics (ACMG) (Criteria were e.g., high penetrance, sufficient published data regarding clinical sensitivity / specificity, functional studies, pathogenic mutations found in more than one family, etc.). After targeted enrichment, genes are analyzed using next-generation sequencing (NGS) technology.
Source: Medical Genetics Center

SureSelect Human Kinome XT Kit

Agilent SureSelect DNA panels are predefined designs which focus on targeted gene sets for specific applications. Agilent offers two human panels, the SureSelect Human Kinome panel and SureSelect X-Chromosome panel. The SureSelect Human DNA Kinome panel targets a comprehensive set of kinases and kinase related genes for enrichment, targeting over 500 kinases and 612 genes. The SureSelect X-Chromosome panel targets all of the genes on the X chromosome.
Source: Agilent

Website

TruSight One

The TruSight One sequencing panel provides clinical genomics research laboratories with an affordable solution for managing a diverse assay portfolio. Developed by Illumina, the TruSight One sequencing panel provides comprehensive coverage of > 4,800 clinically relevant genes. Laboratories can analyze all of the genes on the panel or choose to focus on a specific subset. Use of this panel enables expansion of existing menus, streamlining of workflows, or creation of an entire portfolio of sequencing options. The result is increased productivity, reduced handling errors, decreased laboratory costs, and consistent reporting.
Source: Illumina

Website


Pin It