What you need to know as a doctor
BRCATESTUK is a partnership of Color, Everything Genetic Ltd and Innermost Healthcare. We provide a high-quality, physician-ordered, next-generation sequencing-based service for hereditary cancer at a low cost.
We include support for physicians, as well as genetic counselling as part of every purchase. Our goal is to expand physician-supported access to genetic testing for hereditary cancer risk to every person, everywhere.
The test, developed by US-based laboratory Color, analyses 30 genes associated with increased risk to develop breast, ovarian, colorectal, melanoma, pancreatic, prostate, stomach, and uterine cancers.
These genes were carefully selected based on scientific studies showing strong association with risk of the most common types of hereditary cancer.
The genes are as follows: APC, CDH1, MLH1, POLE, ATM, CDK4, MSH2, PTEN, BAP1, CDKN2A (p14ARF), MSH6, RAD51C, BARD1, CDKN2A (p16INK4a), MUTYH, RAD51D, BMPR1A, CHEK2, NBN, SMAD4, BRCA1, EPCAM, PALB2, STK11, BRCA2, GREM1, PMS2, TP53, BRIP1, MITF, POLD1
The assay fully sequences the coding sequences and intron/exon boundaries for the genes of interest, with the exceptions noted below.
Several intronic regions are also included in order to improve the resolution of copy number variation detection. The assay has a high degree of analytical validity for the detection of single nucleotide variants, small insertions and deletions (indels), and larger deletions and duplications (copy number variants, or CNVs). Validation using 507 blinded clinical specimens and 34 cell lines yielded an accuracy of 100% for 522 variants representing all these classes.
The service is now available in the UK for just £395, including BRCATESTUK Pretest Consultation. For positive result patients we also provide Post Test Genetic Counselling with a qualified clinical geneticist from our list. Consultation following negative results also available at patients cost.
We also have a service for Clinical Geneticists at £295 which does not include pre and post counselling and support.
Useful information about the research behind the Color Genomics test