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The Cytochrome P450 Drug metabolizing panel interrogates all exons and flanking regions of the genes listed in disease table, which are amplified enzymatically and subjected to Next-Generation DNA Sequencing on an Ion Torrent Instrument.
Only the genetic variants that result alleles described in the results table will be evaluated and reported. The deletion and duplication of 2D6 was analyzed using Real time quantitative PCR. Although DNA-based testing provides highly accurate genotyping, rare diagnostic errors may occur. Examples include misinterpretation because of polymorphisms or rare genetic variants, blood transfusion, mislabeled specimens, amplicon drop outs or erroneous representation of family relationships. Bone marrow transplants from allogenic donors will interfere with testing.
Blood: 3-5 ml purple top (EDTA) vacutainer of whole blood inverted several times to mix. Forward within 48 hours at room temperature.
Amniotic Fluid: 10-15 ml amniotic fluid from 14th-17th week of gestation or one confluent T25 flask of cultured cells. Send specimen refrigerated, but not frozen (do not ship on dry ice). Please use an overnight courier service.
Test Method: Next Generation Sequencing
Turn around time: 7-10 days
Report: will include assay results, background information, and a calculation of residual carrier risk if results are negative.