Additional Information:
Epic order code: GATORPGX PANEL [LAB123050000]
CPT Code(s):
81226
81225
81227
81335
Specimen Requirements:
Whole blood or buccal swabs
Specimen preparation:
• Blood: Transport 3 mL of whole blood collected in EDTA (lavender-top) tube (minimum 1 mL).
• Buccal swab: Cells collected from the inside of the patient's cheek are needed for testing. Patients must not eat within 30 minutes of cell collection. This is the MOST IMPORTANT STEP and should be performed carefully to collect a sufficient amount of material for the analysis. For breastfeeding infants, collect specimens at least one hour after feeding. Poor specimen collection will require re-collection.
1. Open the brush packet and remove the brush. The packet must be opened according to the instructions on top of the flap.
2. Scrape the inside of the cheek wall horizontally 10 times in a back-and-forth motion, as you rotate the brush.
3. After collecting the cheek cells, place the brush directly into the correctly labeled envelope.
4. Ensure that all the specimens are clearly and appropriately labeled.
5. Close and seal the envelope after all specimens are collected.
6. Place all specimen envelopes into a 4°C storage area for pickup and delivery to University of Florida Health Pathology Laboratories.
Note:
Whole blood is the preferred specimen. Buccal samples that yield inadequate DNA quality and/or quantity will be reported as inconclusive if test performance does not meet laboratory-determined criteria for reporting.
Unacceptable conditions
• Severely hemolyzed, clotted and/or frozen blood specimens
• Specimens in heparin (green-top) tubes
• Buccal swabs of insufficient quantity
Storage/Transport temperature:
• Refrigerated
Stability (collection to shipping of the sample):
• Ambient: 24 hours
• Refrigerated: 1 week
• Frozen: Unacceptable
Use:
The GatorPGX assay is used to detect and identify a panel of nucleotide variants found within CYP2C19, CYP2C9, CYP2D6, CYP3A5, CYP4F2, CYP2C Cluster, NUDT15, SLCO1B1, TPMT and VKORC1 genes. This assay is a qualitative genotyping assay which can be used as an aid to clinicians in determining therapeutic strategy for therapeutics that are metabolized by the gene product. It is not indicated for stand-alone diagnostic purposes. This test is not intended to be used to predict drug response or non-response. This test does not replace the need for therapeutic drug or clinical monitoring.
Methodology:
The GatorPGX assay is a Laboratory developed test using QuantStudio 12K Flex Real Time PCR System (Applied Biosystems by Life Technologies) and Lifetechnology TaqMan® SNP Genotyping Assays. Genotype information is translated into enzyme activity category calls. The assay will detect the following variants:
For CYP2D6, this assay can also identify gene rearrangements associated with the deletion (*5) and duplication genotypes, which are defined as two or more gene copies per allele. The phenotype calls are based on Clinical Pharmacogenetics Implementation Consortium Guidelines (Crews KR et al., Clin Pharmacol Ther., 2014: 95: 376-82).
Reported:
Within 7 - 10 days
Performed:
Weekly
Interpretation Data:
Genotype (based on alleles list above) and Phenotype will be resulted for CYP2C19, CYP2C9, CYP2D6, CYP3A5, NUDT15, SLCO1B1 and TPMT. Genotype only will be resulted for CYP2C Cluster, CYP4F2 and VKORC1. Phenotypes will be resulted based on the genotype for each gene (except CYP2C Cluster, CYP4F2 and VKORC1).
| Gene | Phenotype | Clinical Implication |
|---|---|---|
| CYP2C19 | Poor Metabolizer | No CYP2C19 enzyme activity. Drugs that are activated or inactivated by CYP2C19 include select SSRIs (e.g. citalopram, escitalopram), TCAs (e.g. amitriptyline), clopidogrel, voriconazole, and others. Because poor metabolizers have no baseline enzyme activity, drugs that induce or inhibit CYP2C19 do not affect enzyme activity. |
| CYP2C19 | Intermediate Metabolizer | Decreased CYP2C19 enzyme activity. Drugs that are activated or inactivated by CYP2C19 include select SSRIs (e.g. citalopram, escitalopram), TCAs (e.g. amitriptyline), clopidogrel, voriconazole, and others. Drugs that inhibit CYP2C19 (e.g. fluconazole, fluoxetine, fluvoxamine) or induce CYP2C19 (e.g. rifampin, ritonavir, efavirenz, enzalutamide, phenytoin) CYP2C19 may decrease or increase CYP2C19 enzyme activity. |
| CYP2C19 | Normal Metabolizer | Normal CYP2C19 enzyme activity. Drugs that are activated or inactivated by CYP2C19 include select SSRIs (e.g. citalopram, escitalopram), TCAs (e.g. amitriptyline), clopidogrel, voriconazole, and others. Drugs that inhibit CYP2C19 (e.g. fluconazole, fluoxetine, fluvoxamine) or induce CYP2C19 (e.g. rifampin, ritonavir, efavirenz, enzalutamide, phenytoin) CYP2C19 may decrease or increase CYP2C19 enzyme activity. |
| CYP2C19 | Rapid Metabolizer | Increased CYP2C19 enzyme activity. Drugs that are activated or inactivated by CYP2C19 include select SSRIs (e.g. citalopram, escitalopram), TCAs (e.g. amitriptyline), clopidogrel, voriconazole, and others. Drugs that inhibit CYP2C19 (e.g. fluconazole, fluoxetine, fluvoxamine) or induce CYP2C19 (e.g. rifampin, ritonavir, efavirenz, enzalutamide, phenytoin) CYP2C19 may decrease or increase CYP2C19 enzyme activity. |
| CYP2C19 | Ultrarapid Metabolizer | Increased CYP2C19 enzyme activity. Drugs that are activated or inactivated by CYP2C19 include select SSRIs (e.g. citalopram, escitalopram), TCAs (e.g. amitriptyline), clopidogrel, voriconazole, and others. Drugs that inhibit CYP2C19 (e.g. fluconazole, fluoxetine, fluvoxamine) or induce CYP2C19 (e.g. rifampin, ritonavir, efavirenz, enzalutamide, phenytoin) CYP2C19 may decrease or increase CYP2C19 enzyme activity. |
| CYP2C19 | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. Drugs that are activated or inactivated by CYP2C19 include select SSRIs (e.g. citalopram, escitalopram), TCAs (e.g. amitriptyline), clopidogrel, voriconazole, and others. Drugs that inhibit CYP2C19 (e.g. fluconazole, fluoxetine, fluvoxamine) or induce CYP2C19 (e.g. rifampin, ritonavir, efavirenz, enzalutamide, phenytoin) CYP2C19 may decrease or increase CYP2C19 enzyme activity. |
| CYP2C19 | Unknown Phenotype | This individual is carrying at least one allele with uncertain/unknown function and the phenotype cannot be determined at this time. Drugs that are activated or inactivated by CYP2C19 include select SSRIs (e.g. citalopram, escitalopram), TCAs (e.g. amitriptyline), clopidogrel, voriconazole, and others. Drugs that inhibit CYP2C19 (e.g. fluconazole, fluoxetine, fluvoxamine) or induce CYP2C19 (e.g. rifampin, ritonavir, efavirenz, enzalutamide, phenytoin) CYP2C19 may decrease or increase CYP2C19 enzyme activity. |
| CYP2D6 | Poor Metabolizer | No CYP2D6 enzyme activity. Drugs that are activated or inactivated by CYP2D6 include select opioids (e.g. codeine, tramadol, oxycodone), SSRIs (e.g. fluvoxamine, paroxetine), ondansetron, TCAs (e.g. amitriptyline, nortriptyline), atomoxetine, tamoxifen, and others. Because poor metabolizers have no baseline enzyme activity, drugs that induce or inhibit CYP2D6 do not affect enzyme activity. |
| CYP2D6 | Intermediate Metabolizer | Decreased CYP2D6 enzyme activity. Drugs that are activated or inactivated by CYP2D6 include select opioids (e.g. codeine, tramadol, oxycodone), SSRIs (e.g. fluvoxamine, paroxetine), ondansetron, TCAs (e.g. amitriptyline, nortriptyline), atomoxetine, tamoxifen, and others. Drugs that inhibit CYP2D6 (e.g. bupropion, fluoxetine, paroxetine, quinidine, terbinafine, cimetidine, cinacalcet, duloxetine, fluvoxamine, mirabegron) may decrease CYP2D6 enzyme activity. |
| CYP2D6 | Normal Metabolizer | Normal CYP2D6 enzyme activity. Drugs that are activated or inactivated by CYP2D6 include select opioids (e.g. codeine, tramadol, oxycodone), SSRIs (e.g. fluvoxamine, paroxetine), ondansetron, TCAs (e.g. amitriptyline, nortriptyline), atomoxetine, tamoxifen, and others. Drugs that inhibit CYP2D6 (e.g. bupropion, fluoxetine, paroxetine, quinidine, terbinafine, cimetidine, cinacalcet, duloxetine, fluvoxamine, mirabegron) may decrease CYP2D6 enzyme activity. |
| CYP2D6 | Normal to Ultrarapid Metabolizer | Normal to increased CYP2D6 enzyme activity. Drugs that are activated or inactivated by CYP2D6 include select opioids (e.g. codeine, tramadol, oxycodone), SSRIs (e.g. fluvoxamine, paroxetine), ondansetron, TCAs (e.g. amitriptyline, nortriptyline), atomoxetine, tamoxifen, and others. Drugs that inhibit CYP2D6 (e.g. bupropion, fluoxetine, paroxetine, quinidine, terbinafine, cimetidine, cinacalcet, duloxetine, fluvoxamine, mirabegron) may decrease CYP2D6 enzyme activity. CYP2D6 ultrarapid metabolizer phenotype is possible for this patient. The result of duplication “DUP” does not indicate which allele is duplicated. |
| CYP2D6 | Ultrarapid Metabolizer | Increased CYP2D6 enzyme activity. Drugs that are activated or inactivated by CYP2D6 include select opioids (e.g. codeine, tramadol, oxycodone), SSRIs (e.g. fluvoxamine, paroxetine), ondansetron, TCAs (e.g. amitriptyline, nortriptyline), atomoxetine, tamoxifen, and others. Drugs that inhibit CYP2D6 (e.g. bupropion, fluoxetine, paroxetine, quinidine, terbinafine, cimetidine, cinacalcet, duloxetine, fluvoxamine, mirabegron) may decrease CYP2D6 enzyme activity. |
| CYP2D6 | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. Drugs that are activated or inactivated by CYP2D6 include select opioids (e.g. codeine, tramadol, oxycodone), SSRIs (e.g. fluvoxamine, paroxetine), ondansetron, TCAs (e.g. amitriptyline, nortriptyline), atomoxetine, tamoxifen, and others. Drugs that inhibit CYP2D6 (e.g. bupropion, fluoxetine, paroxetine, quinidine, terbinafine, cimetidine, cinacalcet, duloxetine, fluvoxamine, mirabegron) may decrease CYP2D6 enzyme activity. |
| CYP2D6 | Unknown Phenotype | This individual is carrying at least one allele with uncertain/unknown function and the phenotype cannot be determined at this time. Drugs that are activated or inactivated by CYP2D6 include select opioids (e.g. codeine, tramadol, oxycodone), SSRIs (e.g. fluvoxamine, paroxetine), ondansetron, TCAs (e.g. amitriptyline, nortriptyline), atomoxetine, tamoxifen, and others. Drugs that inhibit CYP2D6 (e.g. bupropion, fluoxetine, paroxetine, quinidine, terbinafine, cimetidine, cinacalcet, duloxetine, fluvoxamine, mirabegron) may decrease CYP2D6 enzyme activity. |
| NUDT15 | Poor Metabolizer | Little to no NUDT15 enzyme activity. Azathioprine, mercaptopurine, thioguanine metabolites are inactivated by NUDT15. For thiopurines, should also consider TPMT genotype/ phenotype. |
| NUDT15 | Intermediate Metabolizer | Decreased NUDT15 enzyme activity. Azathioprine, mercaptopurine, thioguanine metabolites are inactivated by NUDT15. For thiopurines, should also consider TPMT genotype/ phenotype. |
| NUDT15 | Normal Metabolizer | Normal NUDT15 enzyme activity. Azathioprine, mercaptopurine, thioguanine metabolites are inactivated by NUDT15. For thiopurines, should also consider TPMT genotype/ phenotype. |
| NUDT15 | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. Azathioprine, mercaptopurine, thioguanine metabolites are inactivated by NUDT15. For thiopurines, should also consider TPMT genotype/ phenotype. |
| NUDT15 | Unknown Phenotype | This individual is carrying at least one allele with uncertain/unknown function and the phenotype cannot be determined at this time. Azathioprine, mercaptopurine, thioguanine metabolites are inactivated by NUDT15. For thiopurines, should also consider TPMT genotype/ phenotype. |
| TPMT | Poor Metabolizer | Little to no TPMT enzyme activity. Drugs that are inactivated by TPMT include azathioprine, mercaptopurine, thioguanine, and others. For thiopurines, should also consider NUDT15 genotype/ phenotype. TPMT genotype does not always predict the true enzymatic activity, and functional assays, if clinically warranted, may be of value. |
| TPMT | Intermediate Metabolizer | Decreased TPMT enzyme activity. Drugs that are inactivated by TPMT include azathioprine, mercaptopurine, thioguanine, and others. For thiopurines, should also consider NUDT15 genotype/ phenotype. TPMT genotype does not always predict the true enzymatic activity, and functional assays, if clinically warranted, may be of value. |
| TPMT | Normal Metabolizer | Normal TPMT enzyme activity. Drugs that are inactivated by TPMT include azathioprine, mercaptopurine, thioguanine, and others. For thiopurines, should also consider NUDT15 genotype/ phenotype. TPMT genotype does not always predict the true enzymatic activity, and functional assays, if clinically warranted, may be of value. |
| TPMT | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. Drugs that are inactivated by TPMT include azathioprine, mercaptopurine, thioguanine, and others. For thiopurines, should also consider NUDT15 genotype/ phenotype. TPMT genotype does not always predict the true enzymatic activity, and functional assays, if clinically warranted, may be of value. |
| TPMT | Unknown Phenotype | This individual is carrying at least one allele with uncertain/unknown function and the phenotype cannot be determined at this time. Drugs that are inactivated by TPMT include azathioprine, mercaptopurine, thioguanine, and others. For thiopurines, should also consider NUDT15 genotype/ phenotype. TPMT genotype does not always predict the true enzymatic activity, and functional assays, if clinically warranted, may be of value. |
| CYP3A5 | Non-Expresser | No CYP3A5 enzyme activity. Drugs that are inactivated by CYP3A5 include tacrolimus and others. Because non-expressers have no baseline enzyme activity, drugs that induce or inhibit CYP3A5 do not affect enzyme activity. The CYP3A5 expresser phenotype is associated with variations in drug response. |
| CYP3A5 | Expresser | CYP3A5 enzyme activity present. Drugs that are inactivated by CYP3A5 include tacrolimus and others. Drugs that inhibit or induce CYP3A4 may also inhibit or induce CYP3A5. The CYP3A5 expresser phenotype is associated with variations in drug response. |
| CYP3A5 | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. Drugs that are inactivated by CYP3A5 include tacrolimus and others. Drugs that inhibit or induce CYP3A4 may also inhibit or induce CYP3A5. |
| CYP3A5 | Unknown Phenotype | This individual is carrying at least one allele with uncertain/unknown function and the phenotype cannot be determined at this time. Drugs that are inactivated by CYP3A5 include tacrolimus and others. Drugs that inhibit or induce CYP3A4 may also inhibit or induce CYP3A5. |
| SLCO1B1 | Poor Function | Little to no SLCO1B1 transporter function. Drugs that are transported by SLCO1B1 include statins (e.g., simvastatin), and others. Because this phenotype has little to no baseline transporter activity, drugs that inhibit SLCO1B1 do not affect transporter activity. |
| SLCO1B1 | Decreased Function | Decreased SLCO1B1 transporter function. Drugs that are transported by SLCO1B1 include statins (e.g., simvastatin), and others. Drugs that inhibit SLCO1B1 (e.g. atazanavir/ritonavir, clarithromycin, cyclosporine, erythromycin, gemfibrozil, lopinavir/ritonavir, rifampin, simeprevir) may decrease SLCO1B1 transporter activity. |
| SLCO1B1 | Normal Function | Normal SLCO1B1 transporter function. Drugs that are transported by SLCO1B1 include statins (e.g., simvastatin), and others. Drugs that inhibit SLCO1B1 (e.g. atazanavir/ritonavir, clarithromycin, cyclosporine, erythromycin, gemfibrozil, lopinavir/ritonavir, rifampin, simeprevir) may decrease SLCO1B1 transporter activity. |
| SLCO1B1 | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. Drugs that are transported by SLCO1B1 include statins (e.g., simvastatin), and others. Drugs that inhibit SLCO1B1 (e.g. atazanavir/ritonavir, clarithromycin, cyclosporine, erythromycin, gemfibrozil, lopinavir/ritonavir, rifampin, simeprevir) may decrease SLCO1B1 transporter activity. |
| SLCO1B1 | Unknown Phenotype | This individual is carrying at least one allele with uncertain/unknown function and the phenotype cannot be determined at this time. Drugs that are transported by SLCO1B1 include statins (e.g., simvastatin), and others. Drugs that inhibit SLCO1B1 (e.g. atazanavir/ritonavir, clarithromycin, cyclosporine, erythromycin, gemfibrozil, lopinavir/ritonavir, rifampin, simeprevir) may decrease SLCO1B1 transporter activity. |
| CYP2C9 | Very Decreased Activity | Little CYP2C9 enzyme activity. Drugs that are inactivated by CYP2C9 include phenytoin, warfarin, and others. Drugs that inhibit CYP2C9 (e.g. amiodarone, felbamate, fluconazole, miconazole, piperine) or induce CYP2C9 (e.g. aprepitant, carbamazepine, enzalutamide, rifampin, ritonavir) may decrease or increase CYP2C9 enzyme activity. For warfarin, should also consider CYP2C Cluster (if African American), CYP4F2, and VKORC1 genotypes. |
| CYP2C9 | Decreased Activity | Decreased CYP2C9 enzyme activity. Drugs that are inactivated by CYP2C9 include phenytoin, warfarin, and others. Drugs that inhibit CYP2C9 (e.g. amiodarone, felbamate, fluconazole, miconazole, piperine) or induce CYP2C9 (e.g. aprepitant, carbamazepine, enzalutamide, rifampin, ritonavir) may decrease or increase CYP2C9 enzyme activity. For warfarin, should also consider CYP2C Cluster (if African American), CYP4F2, and VKORC1 genotypes. |
| CYP2C9 | Slightly Decreased Activity | Slightly decreased CYP2C9 enzyme activity. Drugs that are inactivated by CYP2C9 include phenytoin, warfarin, and others. Drugs that inhibit CYP2C9 (e.g. amiodarone, felbamate, fluconazole, miconazole, piperine) or induce CYP2C9 (e.g. aprepitant, carbamazepine, enzalutamide, rifampin, ritonavir) may decrease or increase CYP2C9 enzyme activity. For warfarin, should also consider CYP2C Cluster (if African American), CYP4F2, and VKORC1 genotypes. |
| CYP2C9 | Normal Activity | Normal CYP2C9 enzyme activity. Drugs that are inactivated by CYP2C9 include phenytoin, warfarin, and others. Drugs that inhibit CYP2C9 (e.g. amiodarone, felbamate, fluconazole, miconazole, piperine) or induce CYP2C9 (e.g. aprepitant, carbamazepine, enzalutamide, rifampin, ritonavir) may decrease or increase CYP2C9 enzyme activity. For warfarin, should also consider CYP2C Cluster (if African American), CYP4F2, and VKORC1 genotypes. |
| CYP2C9 | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. Drugs that are inactivated by CYP2C9 include phenytoin, warfarin, and others. For warfarin, should also consider CYP2C Cluster (if African American), CYP4F2, and VKORC1 genotypes. |
| CYP2C9 | Unknown Phenotype | This individual is carrying at least one allele with uncertain/unknown function and the phenotype cannot be determined at this time. Drugs that are inactivated by CYP2C9 include phenytoin, warfarin, and others. Drugs that inhibit CYP2C9 (e.g. amiodarone, felbamate, fluconazole, miconazole, piperine) or induce CYP2C9 (e.g. aprepitant, carbamazepine, enzalutamide, rifampin, ritonavir) may decrease or increase CYP2C9 enzyme activity. For warfarin, should also consider CYP2C Cluster (if African American), CYP4F2, and VKORC1 genotypes. |
| CYP2C Cluster | NA | Genotype results for VKORC1, CYP2C, and CYP4F2, may be used in combination with clinical factors to predict initial warfarin dose. If initiating warfarin, consider requesting individualized PMP consult. |
| CYP2C Cluster | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. |
| CYP4F2 | NA | Genotype results for VKORC1, CYP2C, and CYP4F2, may be used in combination with clinical factors to predict initial warfarin dose. If initiating warfarin, consider requesting individualized PMP consult. |
| CYP4F2 | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. |
| VKORC1 | NA | Genotype results for VKORC1, CYP2C, and CYP4F2, may be used in combination with clinical factors to predict initial warfarin dose. If initiating warfarin, consider requesting individualized PMP consult. |
| VKORC1 | Unable to Genotype | The analysis failed to yield an informative result and thus no genotype is reported. It cannot be determined with certainty if this is related to the specimen (e.g. degradation of substrate DNA, presence of an inhibitor substance, etc.) or reflects a mutation at the primer binding site. If clinically warranted, repeat testing on a second specimen may be of value. |
• Assay limitations: In the case of rare alleles that the GatorPGX assay is not designed to detect, the genotype will default to a *1, no call, or an allele that is most genetically similar. Only alleles listed in the Methodology section will be identified by this product. Other alleles, which are rare, or were unknown at the time of release of this product, will not be identified by this product. These other alleles may result in either a *1 call, a no-call, or a call of a genetically related allele included in this assay. A *1 call or the call of a genetically related allele may result in a phenotype prediction that is different from the phenotype prediction that would be made if the presence of the rare allele were known. Polymorphisms or mutations in primer-binding regions can affect the alleles tested, and consequently, the calls made. For CYP2D6, the result of "duplication" (DUP) does NOT indicate the exact number of alleles present or which allele is duplicated. This is a present or not present result only and is not dependent on allelic ratios. The sensitivity and specificity of this assay is above 99%.