Hereditary Genetic Testing NGS Panel

Cardio-Pulmonary Testing

Genes and diseases associated with hereditary cardio-pulmonary conditions.

Hereditary Neurological Disorder Panel

Targeted gene coverage for inherited neurological disease applications.

Hereditary Eye Disorder Panel

Genetic testing support for hereditary vision and eye-related disorders.

Hereditary Thyroid Disorder Panel

Focused hereditary thyroid disorder gene and disease coverage.

Immunodeficiency Genetics Disease Panel

Gene content associated with inherited immunodeficiency conditions.

Hereditary Cancer Genomic Testing Panel

Hereditary cancer-related gene and disease coverage for oncology applications.

Hereditary Metabolic Panel

Targeted gene coverage for hereditary metabolic disorder testing.

Panel Design

Clinically Focused Hot Spot Design

Our Hereditary Hot Spot NGS Panel employs a targeted sequencing strategy focused on genomic regions with established clinical relevance and strong genotype–phenotype correlation.

By concentrating on known pathogenic and likely pathogenic loci, the panel maximizes diagnostic yield while reducing incidental findings and interpretive complexity.

Compared with broader approaches such as whole exome sequencing and large hybrid capture panels, this focused design delivers clinically actionable results with greater efficiency and faster turnaround times.

SNVs

Detection of single nucleotide variants in clinically relevant hereditary disease-associated regions.

Indels

Identification of small insertions and deletions that may contribute to inherited disease risk.

CNVs Across 85 Genes

CNV analysis for 85 high-impact genes with known dosage sensitivity.

Sample Collection

Guidance for proper sample collection and intake workflows.

DNA Extraction

DNA extraction solutions to support reliable downstream analysis.

Library Prep QC

Quality control metrics for library preparation and consistency.

Target Enrichment

Support for target enrichment and sequencing workflows.

Bioinformatics

Library prep and secondary analysis are all included in a seamless workflow solution. Results can then be downloaded for tertiary analysis and reporting.

Clinical Reporting

Clinical-grade variant reporting for actionable hereditary insights.

Validation Support

Assistance with clinical validation and assay implementation.

Illumina

Designed to support implementation on Illumina sequencing workflows.

Element

Compatible with Element sequencing platform requirements.

Ion Torrent

Supports Ion Torrent workflows for targeted hereditary testing.

High-Throughput Testing

Supports medium- to high-throughput hereditary testing environments.

Multispecialty Programs

Designed for broad genetic testing menus across multiple disease categories.

Predictable Costs

Focused panel content helps reduce unnecessary sequencing and analysis burden.

Actionable Results

Focused content supports clinically actionable hereditary insights.

Applications

Clinical Utility

The Hereditary Hot Spot NGS Panel is well suited for hereditary testing programs that require focused, efficient, and clinically relevant genetic insights.