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- DME Genotyping
Expected Turnaround Time
6 - 10 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Maintain specimen at room temperature or refrigerate at 4°C.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container
The xTAG® CYP2D6 Kit v3 is a qualitative genotyping assay, which can be used as an aid to clinicians in determining therapeutic stategy for therapeutics that are metabolized by the CYP2D6 gene product. CYP2D6 is involved in the metabolism of more than 65 commonly used drugs including β-blockers, antipsychotics, antidepressants, analgesics, and antiarrythmics. The CYP2D6 gene is highly polymorphic. Many alleles of 2D6 encode enzymes that have reduced or no function compared to the wild-type enzyme. Individuals can also have gene rearrangements with more than two copies of the CYP2D6 gene (gene duplication) or absence of both copies (gene deletion). Depending on the combination of alleles in an individual, drug-metabolizing phenotypes associated with the CYP2D6 enzyme can vary.
This kit is not indicated for stand-alone diagnostic purposes. This test is not indicated to be used to predict drug response or non-response. Only alleles listed will be identified by this product. Other CYP2D6 alleles, which are rare, or were unknown at the time of release of this product, will not be identified by this product. These other CYP2D6 alleles my result in either a *1 call, a no-call, or a call of a genetically related allele included in this kit. The CYP2D6 phenotype depends on enviromental factors in addition to the CYP2D6 genotype. These factors include the individual's age, size and gender, renal and liver function, disease status, and lifstyle factors such as smoking, some foods, and alcohol consumption. The co-administration of drugs metabolized by the CYP2D6, or other drugs that can act as inducers or inhibitors of CYP2D6 also affect the drug-metabolizing phenotype.
This assay utilizes the Luminex xTAG® CYP2D6 Kit v3 US-IVD.
The xTAG® CYP2D6 Kit v3 is a device used to simultaneously detect and identify a panel of nucleotide variants found within the highly polymorphic CYP2D6 gene located on chromosome 22 from genomic DNA extracted from EDTA and citrate anticoagulated whole blood samples. This kit can also identify gene rearrangements associated with the deletion (*5) and duplication genotypes. The xTAG® CYP2D6 Kit v3 incorporates multiplex Polymerase Chain Reaction (PCR) and multiplex Allele Specific Promer Extension (ASPE) with Luminex's proprietary Universal Tag sorting system on the Luminex® 100/200™ xMAP® platform.
Alleles detected by the xTAG® CYP2D6 Kit v3: *1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *15, *17, *29, *35, *41, and DUP (duplication). The *1 allele is the most common allele in all ethnicities.
Drug-metabolizing phenotypes have been classified into groups, from the lowest level of metabolism to the highest level of metabolism: poor metabolizers (PMs), intermediate metabolizers (IMs), normal metabolizers (NMs), rapid metabolizers (RMs), and ultra-rapid extensive metabolizers (UMs). The combination of alleles contributes to the individual's phenotype. For CYP2D6, categories of alleles include: normal function (*1, *2, *35), reduced function (*9, *10, *17, *29 and *41), non-functional (*3, *4, *5, *6, *7, *8, *11 and *15), and increased function resulting from gene duplication. The combination of inherited alleles is a diplotype. There is no standard approach to convert diplotypes into predicted phenotype, and more importantly, predictions may not absolutely correlate to the observed phenotype. However, the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines describe a frequently referenced model for assigning activity scores to diplotypes and subsequently predict a phenotypic metabolic classification.
Variations in CYP2D6 enzyme activity can lead to a variety of problems in clinical practice. PMs develop a higher serum concentration of drug, which may lead to increased risk of concentration-dependent side effects. They may also experience drug toxicity or other adverse drug reactions, or prolonged therapeutic effect because of impaired clearance of drug. If a drug is administered as a pro-drug that requires biotransformation to an active form, PMs may experience inadequate therapeutic effect if the drug does not reach the therapeutic dose. IMs may experience some of these same problems to a lesser extent. For UMs, rapid metabolism of the drug may lead to inadequate drug efficacy and therapeutic failure, because the drug may not reach the therapeutic serum concentration. For pro-drugs, UMs may be at higher risk of adverse drug reactions and side effects.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|511230||Cytochrome P450 2D6 Genotyping||40425-1||504202||2D6 Genotype:||40425-1|
|511230||Cytochrome P450 2D6 Genotyping||40425-1||504631||Director Review:||69426-5|
|511230||Cytochrome P450 2D6 Genotyping||40425-1||504376||Interpretation:||72880-8|
|511230||Cytochrome P450 2D6 Genotyping||40425-1||504377||CYP2D6 Information:||49549-9|
|511230||Cytochrome P450 2D6 Genotyping||40425-1||000000||MGRM Informed Consent Review||N/A|