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Methodology

Methodology

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Molecular Genetics
TTargeted variant analysis
Agena MassARRAY system

Test comments

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This test was developed, and its performance characteristics determined by our laboratory partner who is a College of American Pathologists (CAP) accredited and Clinical Laboratory Improvement Amendments (CLIA) certified clinical laboratory (accredited lab No 45D1102202) qualified to perform high-complexity testing. This test is comprised of the Veridose Core and Veridose CYP2D6 CNV panels developed by Agena, and its performance characteristics have been determined by Gene by Gene. It has not been cleared or approved by the FDA. FDA does not require this test to go through premarket FDA review. This test is used for clinical purposes. It should not be regarded as investigational or for research. The genomic regions listed in this report were tested using the Agena MassARRAY® System; there is a possibility that the tested individual is a carrier for additional, undetected variants that may affect results. Although molecular tests are highly accurate, rare diagnostic errors may occur that interfere with analysis. Sources of these errors include sample mix-up, trace contamination, and other technical errors. The presence of additional variants nearby may interfere with variant detection. Genetic counseling is recommended to properly review and explain these results to the tested individual.Response to medications is complex and may also be influenced by factors which are not tested for (e.g. patient adherence to prescription regimen, concurrent illness, drug-drug interactions). The test only determines details of response to medications listed by the health professional. Allergic reactions cannot be detected by this genetic test. The test does not detect all known variants in the genes tested. If an individual carries a rare variant not covered by the test, the phenotype may be inaccurately reported.Unless instructed by their doctor, patients are advised not to alter the dose or stop any medications. The interpretation and clinical recommendations are based on the above results as reported by Gene by Gene and also uses information provided to myDNA Life Inc. by the referring healthcare professional via Lineagen. This report also assumes correct labelling of sample tubes and that the sample is from the indicated patient.

TEST PANEL OF GENES AND VARIANTS: The current list of reported haplotypes are below. Unless otherwise indicated, the *1 allele denotes the absence of any variant and is designated as the wild type: CYP2D6 *2 (LRG_303:g.7870C>T; 9200G>C), *3 (LRG_303:g.7569del), *4 (LRG_303:g.[5119C>T; 6866G>A; 9200G>C]), *5 (del(CYP2D6)), *6 (LRG_303:g.6727del), *7 (LRG_303:g.7955A>C), *8 (LRG_303:g.[6778G>T; 7870C>T; 9200G>C), *9 (LRG_303:g. 7635_7637del), *10 (LRG_303:g.[5119C>T; 9200G>C]), *11 (LRG_303:g.[ 9200G>C ;590G>C]), *12 (LRG_303:g.[5143G>A; 7870C>T; 9200G>C]), *114 (LRG_303:g.[5119C>T; 6778G>A ; 7870C>T; 9200G>C]), *14 (LRG_303:g.[6778G>A ;7870C>T; 9200G>C]),*15 (LRG_303:g.5156dup), *17 (LRG_303:g.[6041C>T; 7870C>T; 9200G>C], *18 (NC_000022.11:g.42126666_42126667insAGTGGGCAC), *19 (LRG_303:g.[7559_7562del; 9200G>C;]), *20 (LRG_303:g.[6996dup; 9200G>C]), *29 (LRG_303:g.[7870C>T;8203G>A;9200G>C], *36 (NC_000022.10:g.[42526694G>A ;42522624_42522669con42536337_42536382]), *41(LRG_303:g.[7870C>T; 8008G>A; 9200G>C]), *69 (LRG_303:g.[5119C>T; 8008G>A; 9200G>C]); CYP2C19 *2 (NG_008384.3:g.24179G>A), *3 (NG_008384.3:g.22973G>A), *4A (NG_008384.3:g.5026A>G), *4B (NG_008384.3:g.[4220C>T; 5026A>G), *5 (NG_008384.3:g. 95058C>T), *6 (NG_008384.3:g.17773G>A), *7 (NG_008384.3:g.24319T>A), *8 (NG_008384.3:g.17736T>C), *17 (NG_008384.3:g.4220C>T); CYP2C9 *2 (LRG_1195:g.9133C>T), *3(LRG_1195:g.48139A>C),*4 (LRG_1195:g.48140T>C), *5 (LRG_1195:g.48144C>G), *6 (LRG_1195:g.16126del), *8 (LRG_1195:g. 9152G>A), *11 (LRG_1195:g. 48067C>T), *12 (LRG_1195:g.55863C>T), *13 (LRG_1195:g.8801T>C), *15 (LRG_1195:g.14625C>A), *25 (LRG_1195:g.9056_9065del), *27 (LRG_1195:g. 9152G>T); VKORC1 - rs9923231 NM_024006.5:c.-1639G>A; CYP1A2 *1C (LRG_1274:g.2035G>A), *1F (LRG_1274:g.5732C>A), *1K (LRG_1274:g.[5166C>T; 5732C>A]), *1L (LRG_1274:g.[2035G>A; 5732C>A]), *7 (LRG_1274:g.9427G>A), *11 (LRG_1274:g.6452C>A); CYP3A4 *2 (NG_008421.1:g.20826T>C), *17 (NG_008421.1:g.20728T>C), *22 (NG_008421.1:g.20493C>T); CYP3A5 *1A(NG_007938.1:g.12083G>A) *2(NG_007938.1:g.[12083G>A; 32386C>A]), *3 (NG_007938.1:g), *6 (NG_007938.1:g.[12083G>A; 19787G>A]), *7 (NG_007938.1:g.[12083G>A;32228dup]); SLCO1B1 - rs4149056 NM_006446.4:c.521T>C; COMT – rs4680 (LRG_1010:g.27009G>A); CYP2B6 *6 (LRG_1267:g.20638G>T), *18 (LRG_1267:g.26018T>C) and OPRM1 - rs1799971 NM_000914.4:c.118A>G.

Test development

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Test developed by laboratory (no manufacturer test name)

Confirmation of results

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N/A

Genes

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.