November Team Training

RNA

100

What is the most common type of identified mutation?

• Missense
• Nonsense
• Splice-site
• Deletion

Missense

200

The specimen requirements for RNA testing (tubes).

• PaxGene Tube = 6mL Lavender Top Tube. (Whole blood is required to be collected in a 2.5mL PaxGene RNA Tube via the RNA + Hereditary Cancer Blood Collection Kit. Saliva Samples are not accepted)

300

The color of the FedEx return envelope  in the DNA+RNA kit.

• The black FedEx envelopes are to alert accessioning that it contains a RNA sample and should be prioritized due to the 3-day window. They also provide faster shipping speed than our standard blood kits - priority overnight.

400

Percent of patients that benefit from RNA analysis.

• Invitae recently completed a study of 20,000+ patients receiving hereditary cancer testing with DNA/RNA analysis. Overall, 6.5% of patients benefited from RNA analysis due to either it providing sufficient evidence for clarifying variants that would have been classified as uncertain or by finding a deep intronic variant outside the reportable range of DNA testing (+/- 20bp). RNA is available at no additional cost to patients tested at Invitae and is available on select panels like the Common Hereditary Cancers or Multi-Cancers panels.

500

 In the case of a non-STAT DNA only panel with reflex to RNA, how many reports will be delivered?

• Three: 1. The first that releases will have both the Core + Expanded panel results; 2. Only Core panel results; 3. Combined DNA + RNA results and will come 10-21 calendar days later

PCM

100

What does FFPE stand for?

• (Formalin Fixed Paraffin Embedded) Tissue

200

The number of variants that can be detected by PCM Panel.

18-50 variants

300

The three specimen types required for PCM.

• 1 Lavender Top
• 2 Streck Tubes
• Tissue Sample

400

What are the two new specimen types accepted for PCM?

Core Needle Biopsy & Fine Needle Aspiration

500

Name 2/4 applications for PCM.

• Risk Stratification
• Therapy Response
• Surveillance
• Prognosis - at higher risk for relapse if ctDNA found post surgery

PCM 2

100

VAF stands for?

Variant Allele Frequency/Fraction

200

PCM has an LOD down to 0.00?% VAF

0.008

300

In the TRACERx study of NSCLC PCM detected recurrence at a median average of ____ days prior to imaging.

151 days

400

 Define Personalized Cancer Monitoring (PCM)

• A pan-cancer, tumor informed liquid biopsy test that uses next-generation sequencing to monitor minimal residual disease (MRD) with high sensitivity.

500

3 newly launched features of PCM

• Expanded sample types
  • Accepting all FFPE tissues, including core needle biopsy (CNB) and fine needle aspirate (FNA) specimens
  • Accepting all timepoints for first plasma sample (pre-and post-surgical)
• Quantitative and longitudinal reporting now included in results
• Streamlined ordering via paper and our convenient online portal

PGx

100

TAT for PGx 

7-14 days

200

Percentage of patients that have a genetic variant that impacts medication response?

99%

300

The number of genes on the PGx panel

38

400

When integrated into care, what are 2/3 potential benefits to the health system of using PGx & YouScript?

• Reduce ED visits
• Reduce readmissions
• Reduce Costs

500

An estimated 1 in 20 people with white/European ancestry produce less of a liver enzyme called dihydropyrimidine dehydrogenase or DPD; 1 in 100 produce no enzyme. Without DPD, this medication stays in the body and results in extensive toxicity.

5FU

Misc.

100

The optional score that can now be included on germline test results that assesses a woman's lifetime risk of breast cancer?

• Tyrer-Cuzick

200

An Assay designed to find common alterations in cancer.

Tumor-agnostic

300

 Invitae's three core panel options?

• BRCA 1/2 Panel: BRCA 1, BRCA 2
• Lynch Syndrome Panel: EPCAM, MLH1, MSH2, MSH6, PMS2
• Adenomatous Polyposis Panel: APC, MUTYH

400

This gene provides instructions for making a liver enzyme called dihydropyrimidine dehydrogenase or DPD.

DYPD

500

PCM TAT - Baseline sample

5-6 weeks (35-42 days)

Day 0 of TAT begins once ALL baseline samples are at the lab.