Ambry CancerNext Expanded+RNA

Synonyms

• AMBRY CANCERNEXT EXPANDED+RNA
• Hereditary Cancer
• LAB14848

Cerner Name

Ambry CancerNext Expanded + RNA

Clinical Info

Comprehensive, pan-cancer test for hereditary cancer predisposition, including genes associated with a wide range of hereditary cancers such as breast, ovarian, uterine, colorectal, gastric, pancreatic, prostate, melanoma, renal, central nervous system tumors, pheochromocytoma/paraganglioma, hematologic malignancy, and other rare cancer predisposition conditions. 77 genes are included in the analysis: AIP, ALK, APC, ATM, AXIN2, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, CTNNA1, DDX41, DICER1, EGFR, EPCAM, ETV6, FH, FLCN, GATA2, GREM1, HOXB13, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RET, RPS20, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 ***INCLUDING RNA ANALYSIS***

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

4mL whole blood and 6mL whole blood in PAX TUBE

Container

Lavender Top Tube AND PAX Tube 

Collection Instructions

Draw EDTA blood tube first, then draw PAXgene blood tube last. Position PAXgene tube vertically below the collection site. If only a PAXgene tube is to be collected, FIRST collect a small amount of blood in a discard tube, THEN collect blood into the PAXgene tube.
Ensure tube remains vertical, drawing a minimum of 2.5 mL of blood. Follow the collection instructions as provided in the specimen kit.
Specimen Processing: Gently INVERT TUBE 8-10 TIMES IMMEDIATELY after draw, before sitting and/or shipping.

Transport Instructions

Maintain samples at room temperature and ship on same day

Specimen Stability

72 Hours Room Temperature7 Days Refrigerated
*Note that PAXgene tubes held for >5 days at room temperature may have a higher risk of failure

Methodology

Ribonucleic acid (RNA) is isolated from the patient's specimen using standardized methodology and quantified. RNA is converted to complementary DNA (cDNA) by reverse transcriptase polymerase chain reaction (RT-PCR). Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and Next-Generation sequencing. +RNAinsight analyzes transcripts for up to 90 genes depending which Ambry Genetics DNA based Hereditary Cancer Panel it is paired with and depending on the absence or presence of RNA transcripts expressed in the blood. Any transcripts found are compared to a human reference pool. The absence or presence of RNA transcripts meeting quality thresholds is incorporated as evidence towards assessment and classification of DNA variants. Any regions not meeting RNA quality thresholds are excluded from analysis. The results from +RNAinsight are used to provide functional RNA information to further support classification of DNA variants. It is not intended to be used as a stand-alone diagnostic test.

Days Performed

Monday-Saturday

Performing Laboratories

• Ambry Genetics Laboratory

CPT

81432 or 81435

PDM

255312

Results

Result Interpretation

Forms