Table A1:
Genes Included in the GeneSight Psychotropic Test
| Gene | Location | Variants Detected by the Test | Mechanism of Action |
|---|---|---|---|
| CYP1A2 | 15q24.1 | 15 SNPs: −163C>A, −246delT, −3860 G>A, −729C>T, −739 T>G, 125C>G, 2116 G>A, 2473 G>A, 2499 A>T, 349 G>A, 3533 G>A, 5090C>T, 5166 G>A, 5347C>T, 558C>A | A member of the cytochrome P450 family of liver enzymes, which plays an important role in drug metabolism |
| CYP2B6 | 19q13.2 | 2 SNPs: A785G (*4) and G516T (*6) | A member of the cytochrome P450 family of liver enzymes, which plays an important role in drug metabolism |
| CYP2C19 | 10q23.33 | Detection of *1, *2, *3, *4, *5, *6, *7, *8 and *17 alleles | A member of the cytochrome P450 family of liver enzymes, which plays an important role in drug metabolism |
| CYP2C9 | 10q23.33 | Detection of *1, *2, *3, *4, *5, and *6 alleles | A member of the cytochrome P450 family of liver enzymes, which plays an important role in drug metabolism |
| CYP2D6 | 22q13.2 | Detection of *1, *2, *2 A, *3, *4, *5 (deletion of allele), *6, *7, *8, *9, *10, *11, *12, *14, *15, *17, and *41 alleles. Multiple copies of the allele | A member of the cytochrome P450 family of liver enzymes, which plays an important role in drug metabolism |
| CYP3A4 | 7q22.1 | Detection of *1, *13, *15A, and *22 alleles | A member of the cytochrome P450 family of liver enzymes, which plays an important role in drug metabolism |
| HTR2A | 13q14.2 | 3 genotypes: A/A, A/G, and G/G | A serotonergic gene where variations affect the mechanism of action for the transporter activity of certain SSRIs (e.g., adverse drug effects) |
| SLC6A4 | 17q11.2 | Detection of three genotypes of two alleles: homozygous for the long allele, homozygous for the short allele, and heterozygous for long and short | A serotonergic gene where variations affect the mechanism of action for the receptor activity of certain SSRIs (e.g., reduced response rate and increased time to response) |
| The long allele is characterized by a 44 base-pair insertion in the promoter region and a 419 base-pair fragment of DNA vs. 375 in the short allele, a visible difference on gel electrophoresis |
Abbreviation: SNP, single nucleotide polymorphism; SSRI, selective serotonin reuptake inhibitor.