What genes are analyzed in the Color Extended test?
The genes we analyze depends on the version of Color you use.
For people who want a more complete understanding of their genes and health, and for those who have a personal or family history of conditions covered. Includes all genes currently analyzed by Color.
Color Extended: The most relevant genes for common hereditary cancers
| Gene | Breast | Ovarian | Uterine | Colorectal | Melanoma | Pancreatic | Stomach | Prostate* |
|---|---|---|---|---|---|---|---|---|
| BRCA1 | ||||||||
| BRCA2 | ||||||||
| MLH1 | ||||||||
| MSH2 | ||||||||
| MSH6 | ||||||||
| PMS2* | ||||||||
| EPCAM* | ||||||||
| APC | ||||||||
| MUTYH | ||||||||
| MITF* | ||||||||
| BAP1 | ||||||||
| CDKN2A | ||||||||
| CDK4* | ||||||||
| TP53 | ||||||||
| PTEN | ||||||||
| STK11 | ||||||||
| CDH1 | ||||||||
| BMPR1A | ||||||||
| SMAD4 | ||||||||
| GREM1* | ||||||||
| POLD1* | ||||||||
| POLE* | ||||||||
| PALB2 | ||||||||
| CHEK2 | ||||||||
| ATM | ||||||||
| NBN | ||||||||
| BARD1 | ||||||||
| BRIP1 | ||||||||
| RAD51C | ||||||||
| RAD51D | ||||||||
|
* CDK4: analysis is limited to chr12:g.58145429-58145431 (codon 24). EPCAM: analysis is limited to deletions that minimally encompass the 3’ end of the gene including exons 8 and/or 9. GREM1: analysis is limited to duplications that overlap the upstream regulatory region. MITF: analysis is limited to chr3:g.70014091 (including c.952G>A). PMS2: analysis is limited to exons 1-11. POLD1: analysis is limited to chr19:g.50909713 (including c.1433G>A). POLE: analysis is limited to chr12:g.133250250 (including c.1270C>G). |
||||||||
| Gene | Cardiomyopathies | Arrhythmias | Arteriopathies | Familial Hypercholesterolemia |
|---|---|---|---|---|
| ACTA2 | ||||
| ACTC1 | ||||
| APOB* | ||||
| COL3A1 | ||||
| DSC2 | ||||
| DSG2 | ||||
| DSP | ||||
| FBN1 | ||||
| GLA | ||||
| KCNH2* | ||||
| KCNQ1* | ||||
| LDLR | ||||
| LMNA | ||||
| MYBPC3* | ||||
| MYH7* | ||||
| MYH11 | ||||
| MYL2 | ||||
| MYL3 | ||||
| PCSK9 | ||||
| PKP2 | ||||
| PRKAG2* | ||||
| RYR2 | ||||
| SCN5A | ||||
| SMAD3 | ||||
| TGFBR1* | ||||
| TGFBR2 | ||||
| TMEM43 | ||||
| TNNI3 | ||||
| TNNT2 | ||||
| TPM1 | ||||
|
* APOB: analysis is limited to chr2:g.21229159_21229161 (codon 3527). KCNH2: exon 4 and 14 are not analyzed. KCNQ1: exon 1 is not analyzed. MYBPC3: exon 11 is not analyzed. MYH7: variants of uncertain significance are not reported for exon 27. PRKAG2: exon 5 is not analyzed. TGFBR1: exon 1 is not analyzed. |
||||
Medication Response
Included as part of the analysis in Color Extended, these genes are associated with some commonly prescribed medications.
| Gene | Star alleles and variants analyzed |
|---|---|
| CYP1A2 | *1F, *1J, *1K |
| CYP2D6 | *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *14A, *14B, *15, *17, *19, *29, *35, *36, *41, *xN |
| CYP2C19 | *2, *3, *4A, *4B, *10, *17 |
| CYP2C9 | *2, *3, *4, *5, *6, *8, *11 |
| CYP3A4 | *1B, *22 |
| CYP3A5 | *3, *6, *7 |
| CYP4F2 | *3 |
| DPYD | *2A, *13 |
| F5 | rs6025 (Leiden) |
| IFNL3 | rs12979860 |
| NUDT15 | rs116855232 |
| SLCO1B1 | rs4149056 |
| TPMT | *2, *3A, *3C, *4 |
| VKORC1 | rs9923231 |
