Cytochrome P450 2D6 (CYP2D6) Genotype Build info

Synonyms

• CYTOCHROME P45 2D6 GENOTYPE
• DME GENOTYPING
• LAB11597

Short Name

CYTOCHROME P45 2D6 GENOTYPE

Procedure Master Number

LAB11597

Procedure ID

115509

Clinical Info

Cytochrome P450 2D6 (CYP2D6) is a drug-metabolizing enzyme involved in the metabolism of more than 65 clinically important drugs including some antidepressants, 
anti-psychotics, opioids, beta-blockers, antiemetics, atomoxetine and tamoxifen. Individuals with some variant CYP2D6 alleles may experience a reduced therapeutic 
response and may be at risk for side effects from drugs that are metabolized by CYP2D6. CYP2D6 genotype information can be utilized to predict CYP2D6 metabolic 
phenotype, which can be used as an aid in determining a therapeutic strategy for drugs that are metabolized by CYP2D6.

Specimen Type

Blood, Other

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender top or Yellow ACD Tube or Buccal Swab
Specimen; 3 mL Whole Blood (1.0 mL min)                    
                  4 Buccal Swabs (2 Swabs min)
Causes for Rejection: Quantity not sufficient for analysis; buccal swab; buccal swabs without outer collection envelope;
severely damaged buccal swab envelope; buccal swab envelope received open; frozen glass tube

Transport Instructions

Room Temperature

Specimen Stability

Room temperature Whole Blood: 28 days
Swabs: 2 Months
Refrigerated Whole Blood: 28 days
                    Swabs: Unstable
Frozen Whole Blood: 2 years
             Swabs : Unacceptable

Methodology

DNA analysis is performed by allele-specific real-time polymerase chain reactions (RT-PCR) to detect single-nucleotide polymorphisms (SNPs), 
insertions or deletions (indels), hybrid, hybrid tandem and copy number variants (CNVs) within CYP2D6 gene and to assign variant CYP2D6 *2, *3, *4, *5 
(deletion), *6, *7, *8, *9, *11, *12, *13 (hybrid), *13, *15, *17, *29, *31, *35, *36 (hybrid), *36+*10 (hybrid tandem), *40, *41, *42, *49, *53, *59 and *68 (hybrid) 
elleles and gene duplications (DUPS; copy number (CN) designated). *1 denotes detection of the reference (wild-type) sequence at the assessed alleles. 
No other variants in this gene are detected by this assay.
Analysis for the *42 allele is dependent upon adequate DNA concentration.

Days Performed

TAT: 7 to 11 Days

Performing Laboratory

LabCorp-Monogram Bioscience

CPT

81226

PDM

5910150

Results