Test Code PT by PCR Prothrombin 20210G>A Mutation by PCR
Useful For
The eSensor® Thrombophilia Risk Test is an in vitro diagnostic for the detection and genotyping of Factor II (Prothrombin) 20210G>A, Factor V (Factor V Leiden) 1691G>A and MTHFR (5,10 methylenetetrahydrofolate reductase gene) 677C>T and 1298A>C mutations in patients with suspected Thrombophilia from isolated genomic DNA obtained from whole blood samples. The test is intended to be used in the eSensor® XT-8 System.
Patient Preparation
No special patient preparation required
Collection Method
Venous colletion
Minimum Volume
3 mL
Note: May be combined with Factor V Leiden Mutation by PCR without additional volume needed.
Container
Pink Top EDTA
Preferred Specimen
EDTA Whole Blood
Acceptable Specimens
- Pink Top EDTA whole blood
- Lavender Top EDTA whole blood
- Lt Blue Top Sodium Citrate whole blood
Reference or Target Ranges
No Mutations Detected
Note: The limit of detection for the eSensor Thrombophilia Risk Test was determined to be 1.0 ng of gDNA, and reproducibility was 100% correlation with DNA sequencing.
Reportable Units
Homozygous/Heterozygous/Not Detected
Critical Value
Not defined for this assay
Reasons for Rejection
Hemolysis Threshold | N/A |
Icterus Threshold | N/A |
Lipemia Threshold | N/A |
Interfering Subtances/Other |
|
Specimen Stability
Ambient | 3 Days |
Refrigerated (4°C to 8°C) | 7 Days |
Frozen(-70°C to 0°C) | 6 Weeks |
Performance Information
Days and Time Performed | Batched once weekly |
Expected Turn Around Time | 7 – 14 Days |
Stat Availabilty | No |
Performing Bench | Molecular Pathology |
Methodology/Method Description | GenMark XT-8 – The eSensor® Technology uses a solid-phase electrochemical method for determining the genotyping status of a defined panel of mutations. Purified genomic DNA is isolated from the patient specimen according to defined laboratory procedures. Following multiplex PCR, single stranded target DNA is generated from the genomic DNA by exonuclease digestion. This specimen is combined with a signal buffer containing a pair of allele-specific oligonucleotide signal probes for each polymorphism, where each pair of signal probes is labeled with a genotype-specific ferrocene derivative. The mixture of amplified sample and signal buffer is loaded onto a cartridge containing single-stranded oligonucleotide capture probes bound to gold-plated electrodes. The cartridge is inserted into the XT-8 instrument where the single stranded targets hybridize to the complementary sequences of the capture probes and signal probes. The genotype of each polymorphism is determined by voltammetry, which generates specific electrical signals from the allele-specific signal probes. |
Special Handling
Do not seperate plasma from cells.
Additional Information/Important Notes
This test is considered Genetic Testing and may be subject to insurance limitations.
CPT Codes
81240
Panel Components
May be combined with Factor V Leiden Mutation by PCR without additional volume needed.