Hereditary Cancer Panel

Hereditary Cancer Panel

Comprehensive Solution for PARPi Development

Hereditary Cancer Panel (HCP) is a hereditary cancer assay that analyzes known and emerging tumor biomarkers for 17 cancer types. It has enabled BRCA testing for the first nationwide germline BRCA mutation prevalence study in Chinese ovarian cancer patients and multiple Poly ADP-Ribose Polymerase inhibitor (PARPi) Phase III global clinical studies.

Features and Benefits

Broad Access to Accurate BRCA Variants for Chinese Patients
Proprietary germline BRCA-mutated database from 30,000+ clinical tests
High consistency rate between automated database and manual interpretations
Low percentage of Variant of Unknown Significance (VUS)
Secure Highly Reliable Results
Clinically validated panel at CAP/CLIA and ISO 15189 labs
Submitted for accelerated IVD approval by NMPA in China
Based on BGI DNBSeqTM next-generation sequencing platform
Results validated by Sanger sequencing or qPCR
Save Time, Money and Samples
Comprehensive coverage of variants in full exome regions of 115 targets
Identify germline variants through consolidated testing
Flexible reporting options for prospective and retrospective cohort studies

Project workflow

We care for your samples from receipt to the reporting of results. Highly experienced laboratory professionals follow strict quality procedures to ensure the integrity of your results.

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Sequencing Service Specification

Sequencing for the Hereditary Cancer Panel is available with DNBseq™ Next Generation Sequencing technology or Illumina HiSeq systems.

Sample Preparation and Services

  • NimbleGen SeqCap, BGI designed, probe-based panel kit for library construction and enrichment

  • 100bp Paired-end sequencing

  • Data analysis and mutations are interpreted with proprietary BGI database (Hereditary Cancer Genetic Database V1.0)

  • Results are delivered in standard file formats, including optional .vcf and .fastq formats for variants and raw sequencing data

  • Custom reports are available upon request

  • Reports and data are made available via secure FTP, AWS Cloud transfer or encrypted hard drive

Sequencing Quality Standard

  • Guaranteed ≥85% of bases with quality score of ≥Q30

  • Sequencing depth ≥300X

  • 99.9% Accuracy, with Sanger sequencing or qPCR validation of positive NGS result

Turn Around Time

  • Typical 15 working days from sample QC acceptance to data analysis results availability

  • Expedited services are available, contact your local BGI specialist for details

Hereditary Cancer Panel is cleared as a clinical test in China and is pending IVD approval through the China National Medical Products Administration (NMPA).

The Hereditary Cancer Panel is available as a clinically-validated Laboratory Developed Test (LDT) from BGI’s CLIA-certified and CAP-accredited service laboratory in Hong Kong.

Product Reporting Options

Several data reporting options are available to tailor the Hereditary Cancer panel report to your specific needs. Contact your BGI representative for a full, current gene list.

Reporting Options Reported Genes Reported Variants
Option 1 BRCA1, BRCA2 SNV, Indel (<20bp) and CNV from entire
exon regions of genes in the panel.
The full panel size is 836 kb and total
number of exons is 1730
Option 2 BRCA1, BRCA2, plus 25 genes related to hereditary risk of ovarian and breast cancer
Option 3 BRCA1, BRCA2, plus 49 genes for 16 types of cancer related to hereditary risk, including:
• Ovarian cancer
• Gastric cancer
• Renal carcinoma
• Prostate cancer
• Multiple endocrine neoplasia
• Thyroid cancer
• Parathyroid carcinoma
• Neurofibromatosis
• Pheochromocytoma
• Familial paraganglioma
• Retinoblastoma
• Melanoma
• Chondrosarcoma
• Colorectal cancer
• Pancreatic cancer
• Endometrial cancer
Option 4 Comprehensive report on all 115 genes included in the full panel.These 39 additional genes have been reported to play a role in hereditary cancers and can be used for research purposes.

Sample Requirements

We can process your Blood, Saliva or DNA samples with the following general requirements:

Sample type Sample Requirement
Whole blood • 5ml, using EDTA anticoagulant tube
• Shipping at ambient temperature
Saliva • ≥ 2ml saliva with using DNA Genotek collection kit
• Shipping at room temperature
DNA • Concentration ≥ 30ng/μl
• Total Mass ≥ 1μg
• OD260/280: 1.8-2.0
• Shipping with dry ice
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