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| Organization: | Alberta Precision Laboratories | ||||||||
| Message Alert: | PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing. | ||||||||
| Test Name/Synonym: | Thyroid Carcinoma Mutation Analysis, Tumor (Synonyms: Thyroid Carcinoma Panel) | ||||||||
| Test Includes: | DNA testing (ThyroSPEC Point Mutation Panel) is performed to detect hotspot single nucleotide variants (SNVs) and insertion/deletion mutations (indels) in 17 genes: AKT1, BRAF, CTNNB1, DICER1, EGFR, EIF1AX, EZH1, HRAS, IDH1, KRAS, NRAS, PIK3CA, RET, SPOP, TERT, TP53, TSHR. Thyroid carcinoma cases negative for BRAF, HRAS, KRAS, and NRAS mutations undergo reflexive RNA fusion panel testing. RNA testing (Kinase Fusion Panel, Tumor) covers fusions, oncogenic isoforms and/or selected single nucleotide variants (SNVs) and small insertions/deletions (indels) involving the following 17 genes: ALK, BRAF, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, KRAS, MET, NRG1, NTRK1, NTRK2, NTRK3, NUTM1, PIK3CA, RET, ROS1. | ||||||||
| LABID (Connect Care): | LAB4858 | ||||||||
| Specimen Type: | Paraffin-Embedded Tissue | ||||||||
| Specimen Source: | Various. | ||||||||
| Specimen Collection Requirements: | A formalin-fixed, paraffin-embedded tissue block (resection specimen, biopsy specimen, cytology cell block) accompanied by a representative H&E (ideally the deepest level) is preferred. The assay requires a minimum of 20% tumor in the selected area (20 tumor nuclei per 100 total nuclei). When possible, non-Cytolyt®-exposed FFPE tissue is preferred over Cytolyt®-exposed FFPE tissue (cytology cell blocks). Alternatively, five 10-micron non-baked unstained slides accompanied by a representative H&E (ideally the deepest level) can be submitted. If the sample is relatively small (less than 10mm squared, for example a core biopsy 1mm in diameter and less than 1cm in length), particularly if the tissue has a low cell density, more than 5 (up to 10) 10-micron non-baked unstained slides may be sent to increase nucleic acid yield for testing. Alternatively, precut scrolls can be submitted, accompanied by a representative H&E (ideally cut after the scrolls). Note: The tissue should not be exposed to decalcification solution. | ||||||||
| Test Resources: | Submit request using the applicable requisition or Connect Care online order entry:
Please ensure all required information, including patient's clinical history/indication, is provided on the requisition. | ||||||||
| Stability and Storage: | Room temperature: paraffin-embedded tissue blocks and slides | ||||||||
| Method: | Molecular Pathology South DNA testing: PCR followed by single base extension and mass spectrometry. RNA Next Generation Sequencing (NGS) | ||||||||
| Method and Interpretation of Results: | DNA: Analysis for point mutations is performed after PCR amplification using a single base extension technique (Agena iPLEX) and mass spectrometry on the MassArray instrument. This multiplexed assay detects hotspot mutations in the above listed genes. RNA: Analysis is performed using next generation sequencing (NGS) to detect gene fusions, oncogenic isoforms, and selected single nucleotide variants (SNVs) and insertions / deletions (indels). The assay utilizes a custom 17 gene Archer FusionPlex® panel, which uses anchored multiplex PCR (AMP) to enable partner-agnostic fusion detection. NGS libraries are sequenced on the Ion Torrent Genexus™ System and analyzed on Archer® Analysis with alignment to reference human genome GRCh37/hg19. Analysis is limited to tumor tissue and, therefore, this test is unable to distinguish between somatic (acquired) and germline (inherited) variants. | ||||||||
| Routine Turn Around Time: | 10 working days | ||||||||
| Testing Schedule: | Weekly | ||||||||
| Testing Area: | Molecular Pathology | ||||||||
| Performing Site: | Foothills Medical Center | ||||||||
| Contact Comments: | "
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| Last Updated On: | Monday, July 24, 2023 | ||||||||
