Germline Genetic Testing Service

Inherited predisposing gene and variant NGS analysis for personalized and hereditary cancer management.

Abnova Diagnostics provides germline genetic testing service to interested individuals, requesting physicians, clinics, and hospitals. These inherited genes are passed on from parents to offspring and play an important role in cancer risk and susceptibility. Moreover, knowledge of these heritable genes can be used not only to reduce the likelihood of developing cancer but also to select effective, evidenced-based therapy to treat cancer. The advent of next-generation sequencing (NGS) platforms has ushered a paradigm shift in the efficient, high-throughput identification and analysis of heritable predisposing genes and their variants across the human genome. Abnova Diagnostics leverages multiple NGS platforms to access these essential yet complex genetic changes to provide the critical information for personalized and hereditary cancer management.

Specimen Requirement


  • Human whole blood: collect at least 4ml whole blood in K2-EDTA tube (purple cap) at room temperature.
  • Sample shipment: keep whole blood sample in room temperature after blood collection and throughout transportation.
  • DNA preparation: extract genomic DNA from the buffy coat fraction of the whole blood sample on the same day of collection and store at 4°C.


Whole Blood Fractionation, Genomic DNA Extraction, Library Preparation, Next-Generation Sequencing, and Gene Mutation Analysis


  • Whole blood fractionation: centrifuge and separate the whole blood into plasma, buffy coat (white blood cells & platelets), and erythrocyte fractions.
  • DNA extraction: extract the genomic DNA from the buffy coat fraction followed by DNA purification and quantification.
  • Library preparation: fragment and size the genomic DNA, convert to double-stranded DNA, attach oligonucleotide adaptors, and quantitate library product.
  • Next-generation sequencing: perform targeted sequencing of heritable predisposing genes established by the national clinical cancer guidelines.
  • Gene mutation analysis: annotate and compare cancer gene mutations including germline variants with published literature and public databases.


Analytical Methods


  • Next Generation Sequencing (NGS)


Deliverables (Sent Within 14 Working Days)


An interpretative report of the germline cancer gene mutations will be provided.

  • Targeted genes used to identify germline cancer mutations.
  • Sequences of cancer gene mutations and their germline variants based on next-generation sequencing.
  • Germline cancer mutation annotation and comparison with known datasets.
  • Additional heritable predisposing gene sequencing per customer’s request.


Services


Cancers Heritable Predisposing Genes Total
Breast Cancer BRCA1, BRCA2 Inquire
Ovarian Cancer BRCA1, BRCA2 Inquire
Colorectal Cancer EpCAM, MLH1, MSH2, MLH6, PMS2 Inquire
Prostate Cancer BRCA1, BRCA2, ATM, PALB2, FANCA Inquire
Renal Cancer VHL Inquire
Any Cancer TP53 Inquire

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