What genes are analyzed in the Color Extended test?

 

This is 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. Color Extended includes all genes currently analyzed by Color. To see a list of genes that can impact medication response, click here.

Color Extended: The most relevant genes for common hereditary cancers

Gene Breast Ovarian Uterine Colorectal Melanoma Pancreatic Stomach Prostate*

* 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).

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              

 

* 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.
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      

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