Test Details
Methodology
Next generation sequencing (NGS); Multiplex Ligation-Dependent Probe Amplification (MLPA); Sanger sequencing
Result Turnaround Time
21 - 28 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.
Use
Tumors with mismatch repair deficiency as determined by MSI or IHC are suspected for HNPCC, Lynch or Lynch-like syndrome. This test will assess the tumor for a pathogenic genetic variant which, if found, may be evaluated in blood to determine germline/hereditary status.
Special Instructions
Testing referred to Impact Genetics, Ontario, Canada. Pathology report with MSI or IHC required. Please direct any questions regarding this test to 877-624-9769.
Limitations
This test was developed, and its performance characteristics determined, by Impact Genetics. It has not been cleared or approved by the US Food and Drug Administration (FDA).
Specimen Requirements
Specimen
Formalin fixed paraffin-embedded (FFPE) tissue and whole blood
Volume
Formalin fixed paraffin embedded (FFPE) block (preferred) or 19 serial unstained unbaked slides (5-10 microns thick) with 1 adjacent unstained unbaked slide (4 microns thick); Whole Blood: 8.5 mL
Minimum Volume
Whole blood: 4 mL
Container
Lavender-top (EDTA) tube, yellow-top (ACD) tube, blocks or slides
Collection Instructions
Whole blood samples must be received at Impact Genetics within five days of collection.
Storage Instructions
Room temperature. Whole blood is stable at room temperature for five days. Fixed tissue is stable indefinitely.
Causes for Rejection
Coagulated blood
References
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 481472 | Tumor MMR Seq and Del/Dup Test | 481473 | Routing | 41103-3 | ||
| Order Code | 481472 | |||||
| Order Code Name | Tumor MMR Seq and Del/Dup Test | |||||
| Order Loinc | ||||||
| Result Code | 481473 | |||||
| Result Code Name | Routing | |||||
| UofM | ||||||
| Result LOINC | 41103-3 |
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 481511 | Seq or Copy in MLH1 | 481511 | Seq or Copy in MLH1 | Not Available | |
| Reflex 1 | ||||||
| Order Code | 481511 | |||||
| Order Name | Seq or Copy in MLH1 | |||||
| Result Code | 481511 | |||||
| Result Name | Seq or Copy in MLH1 | |||||
| UofM | ||||||
| Result LOINC | Not Available | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 481512 | Seq or Copy in MSH2 | 481512 | Seq or Copy in MSH2 | Not Available | |
| Reflex 1 | ||||||
| Order Code | 481512 | |||||
| Order Name | Seq or Copy in MSH2 | |||||
| Result Code | 481512 | |||||
| Result Name | Seq or Copy in MSH2 | |||||
| UofM | ||||||
| Result LOINC | Not Available | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 481513 | Seq or Copy in blood MSH6 | 481513 | Seq or Copy in blood MSH6 | Not Available | |
| Reflex 1 | ||||||
| Order Code | 481513 | |||||
| Order Name | Seq or Copy in blood MSH6 | |||||
| Result Code | 481513 | |||||
| Result Name | Seq or Copy in blood MSH6 | |||||
| UofM | ||||||
| Result LOINC | Not Available | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 481514 | Seq or Copy in blood PMS2 | 481514 | Seq or Copy in blood PMS2 | Not Available | |
| Reflex 1 | ||||||
| Order Code | 481514 | |||||
| Order Name | Seq or Copy in blood PMS2 | |||||
| Result Code | 481514 | |||||
| Result Name | Seq or Copy in blood PMS2 | |||||
| UofM | ||||||
| Result LOINC | Not Available | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 481515 | Seq or Copy in blood EPCAM | 481515 | Seq or Copy in blood EPCAM | Not Available | |
| Reflex 1 | ||||||
| Order Code | 481515 | |||||
| Order Name | Seq or Copy in blood EPCAM | |||||
| Result Code | 481515 | |||||
| Result Name | Seq or Copy in blood EPCAM | |||||
| UofM | ||||||
| Result LOINC | Not Available | |||||