NIPT Reference Standard

HRR Reference Standards – 28‑Gene Panel for Homologous Recombination Repair Research

Comprehensive reference material covering key HRR genes with diverse mutation types and allele frequencies.

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Product Introduce

OHomologous Recombination Repair (HRR) – 28‑Gene Reference Standard.Homologous recombination repair (HRR) is a critical pathway for DNA double‑strand break repair. Defects in HRR genes (e.g., BRCA1, BRCA2, ATM, PALB2) lead to genomic instability and are associated with breast, ovarian, prostate, pancreatic, and other cancers. Patients with HRR deficiency often benefit from PARP inhibitors and platinum‑based therapies.

CB-Gene’s HRR‑Related 28‑Gene Reference Standard (CBP90021/CBP90044) is a well‑characterized, cell‑line‑derived cocktail that mimics clinical samples. It contains all 28 HRR pathway genes (as defined by the ARIEL3 study), each carrying mutations with diverse types: missense, nonsense, insertions, deletions, splice variants, and copy number variations. The standard includes clinically annotated variants (Benign, Likely Benign, VUS, Likely Pathogenic, Pathogenic) and a wide range of allele frequencies (from 1–5% near LoD to 50–100% high frequency). It is validated by 1000x WES, 3500x targeted NGS panel, and ddPCR for select sites.

Product Advantages

Our HRR Reference Standards simulate precise variant allele frequencies (VAFs) mirroring real clinical samples.

Comprehensive Coverage

28 HRR pathway genes including BRCA1, BRCA2, ATM, ATR, BARD1, BLM, BRIP1, CDK12, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCF, FANCI, FANCL, FANCM, MRE11A, NBN, PALB2, PPP2R2A, RAD50, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, and RPA1.

Diverse mutation types

Missense, nonsense, frameshift insertions/deletions, splice site variants, and synonymous variants.

Full clinical annotation spectrum

Includes Benign, Likely Benign, Uncertain Significance, Likely Pathogenic, and Pathogenic variants.


Wide allele frequency range

From ~1–5% (near LoD), through 10–50% (medium), up to 100% (high/ homozygous).



Multi‑platform validation

Characterized by 1000x WES, 3500x targeted NGS panel, and ddPCR for key sites.

Patent‑protected technology

Developed based on Cobioer’s patent “Standard for DNA Homologous Recombination Repair Gene Detection and Its Preparation Method”.

Application

Company Advantage

Expertise in reference standards – CB-Gene specializes in oncology molecular diagnostics with ISO‑certified production and patented technology.

Scientific Quality Management

With our ISO9001 certification, we adhere to a stringent quality management system, ensuring that all our products meet the highest standards of accuracy, stability, and consistency.

Experienced and Skilled Team

Backed by a talented team of experts, we leverage advanced technology and extensive experience to drive innovation in molecular diagnostics, ensuring we stay at the forefront of the industry.

Comprehensive annotation

Includes benign to pathogenic variants, helping you evaluate real‑world assay performance.

Comprehensive Product Range

We offer a complete set of reference materials, including SNP, Indel, CNV, Fusion, NIPT, and more, covering a wide array of diagnostic needs and offering customized services for a variety of applications.

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We're here to assist you! Whether you have questions about our products, services, or need technical support, our team is ready to provide you with the information you need. Reach out to us today!

FAQs

Q: Which genes are included in the HRR‑Related 28‑Gene Standard?
The standard covers all 28 genes defined in the ARIEL3 study: BRCA1, BRCA2, ATM, ATR, BARD1, BLM, BRIP1, CDK12, CHEK1, CHEK2, FANCA, FANCC, FANCD2, FANCF, FANCI, FANCL, FANCM, MRE11A, NBN, PALB2, PPP2R2A, RAD50, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, and RPA1.
Q: Why should I use CB-Gene’s NIPT Reference Standards
CB-Gene’s NIPT Reference Standards are highly accurate, rigorously tested, and offer a comprehensive range, including autosomal and sex chromosome aneuploidies. These standards ensure the reliability of your NIPT testing, supporting high-quality prenatal diagnostics.
Q: How is the standard validated?
Yes! We offer flexible and customizable solutions, tailoring our reference standards to suit specific laboratory requirements and optimizing test accuracy based on individual needs.
Q: Can I request a free trial sample?
Yes, as announced, we offer free trial samples for the HRR‑Related 28‑Gene Standard (CBP90021). Please contact our team at sales@cb-gene.com to apply.
Q: How can I request a quote or technical datasheet?
Please contact us at sales@cb-gene.com or visit our website. We offer free technical consultation, sample applications, and custom‑sized packaging.

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