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Services

Clinical Offerings

The HTGC works with clinicians, medical centers, and direct-to-consumer organizations to provide clinical sequencing services within our CAP-accredited, CLIA-certified lab. Our expert team of laboratory technicians, bioinformaticians, software engineers, and board-certified CLIA director are ready to support your clinical needs. Together we can shape patient care and outcomes through the application of our high-quality sequencing results.

Research Offerings

The HTGC is your trusted partner for research sequencing projects of any scale. Together, we can ensure that the sequencing fits your budget and timeline.  Our trained and qualified staff is ready to support your research initiatives and sequencing needs.

Services

DNA/RNA Extraction

From blood, saliva, buccal swab, fresh, frozen, or FFPE tissue, buffy coats, cell pellets or PBMC, lymphatic and cystic fluid. Other sample types may be available on request

Quantity, Concentration, and Quality Checks (extracted DNA/RNA, prepared libaries)

Using Fragment Analyzer, Qubit, Synergy, Tecan, or qPCR.

RNA and DNA Library Preparation

We prepare mRNA, Total-RNA, Whole Genome, and Whole Exome libraries

Next Generation Sequencing Services

We sequence various types of libraries including mRNA, Total-RNA, single cell-RNA, single cell-ATAC, 10x genomics speciality, Nanostring specialty, ATAC-seq, Amplicon, Whole Genome*, and Whole Exome* libraries within investigator-defined parameters and output targets.

*Laboratory-Developed Test validated for clinical use available

Pharmacogenomics

In collaboration with the Pharmacogenomics Center of Excellence in the University of Pittsburgh School of Pharmacy, we can return the following from blood, saliva, buccal swabs, or extracted DNA sample types:

  • Research results spanning more than 4600 markers in nearly 1200 genes (returning raw CEL files and/or VCF from ThermoFisher’s PharmacoScan Assay
  • Clinical-grade reporting on a subset of validated, actionable genotypes for medication management and inclusion in the medical record

Laboratory-Developed Test validated for clinical use available

Axiom Microarray Services
  • We offer the Axiom PangenomiX and PangenomiX Plus array. The PangenomiX Plus array cover pathogenic variants and modules for PGx, neurological disorders, ancestry, SARS-CoV-2, and immunity panels; ACMG 73 update; HLA typing; copy number fixed regions; PGx content;  ~800,000 markers 
  • Our platforms are also able to run the previous releases: Axiom Precision Medicine Research Array (PMRA) & Axiom Precision Medicine Diversity Array (PMDA).
Bioinformatics and Data Analysis
  • We provide a range of custom and standard bioinformatics analyses including but not limited to
  • Whole Exome or Genome Germline and Somatic/Tumor Variant Calling
  • Whole Genome Copy Number Variant and Tumor Purity
  • RNAseq Feature Counts with/without Variant Calling
  • RNAseq Differential Gene Expression 
  • 10x Genomics Cellranger Primary Analysis

Raw or formatted sequencing data files (bcl, fastq, BAM, VCF and CEL ) files for use in external analysis are also available for relevant test types.

Project Management

We support investigators with

  • No-cost planning and setup consultations with our in-house experts
  • Translation of research findings to development of clinical testing
  • Ongoing support, troubleshooting, customization, and experimental design throughout the process
  • Validating outside or creating in-house custom workflows and analyses for novel projects
  • Clinical-grade reports appropriate for medical decision-making and inclusion in the medical record
  • Letters of Support and other grant/publication support documents as needed
  • Project-based invoicing to any funding source