NOW AVAILABLE FOR ORDERS ON/AFTER JULY 22ND
We are refreshing our hereditary cancer test menu based on the latest medical management guidelines, clinical literature, and customer feedback to deliver the most up-to-date, clinically relevant testing options to healthcare providers and patients. Contact your regional Account Executive or Genomic Science Liaison for more information on the timing and details of the launch.
New Tests
| Test Name | Test Code | Description | Genes |
|---|---|---|---|
| Test Name: BRCANext™ | Test Code: 8855 | Description: Management guidelines-based panel including 18 genes associated with hereditary breast and/or gynecologic cancers | Genes: ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53 |
| Test Name:BRCANext-Expanded™ | Test Code: 8860 | Description: 23 genes associated with hereditary breast and/or gynecologic cancers | Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, RECQL, SMARCA4, STK11, TP53 |
Updated Tests
| Test Name | Test Code | Description | New/Removed Genes |
|---|---|---|---|
| Test Name: CancerNext® | Test Code: 8824 | Description: Added four genes associated with colorectal cancer, polyposis, and breast cancer Removed two genes with disputed clinical validity |
New/Removed Genes: Added: AXIN2, MSH3, NTHL1, RECQL Removed: MRE11A, RAD50 |
| Test Name: CancerNext-Expanded® | Test Code: 8874 | Description: Added 12 genes associated with colorectal cancer, polyposis, breast cancer, diffuse gastric cancer, GIST, lung cancer, parathyroid carcinoma/hyperparathyroidism, or other cancers/tumors Removed two genes with disputed clinical validity |
New/Removed Genes: Added: AXIN2, CDC73, CTNNA1, EGFR, EGLN1, KIF1B, KIT, LZTR1, MSH3, NTHL1, PDGFRA, RECQL Removed: MRE11A, RAD50 |
| Test Name: ColoNext® | Test Code: 8822 | Description: Added three genes with medical management guidelines associated with colorectal cancer and polyposis | New/Removed Genes: Added: AXIN2, MSH3, NTHL1 |
| Test Name: BrainTumorNext® | Test Code: 8847 | Description: Added two genes: EPCAM is associated with Lynch syndrome and LZTR1 is associated with schwannomatosis | New/Removed Genes: Added: EPCAM, LZTR1 |
| Test Name: RenalNext® | Test Code: 5900 | Description: Added one gene associated with renal cancer | New/Removed Genes: Added: CHEK2 |
| Test Name: PGLNext® | Test Code: 5504 | Description: Added two genes associated with paragangliomas (PGL) and pheochromocytomas (PCC) | New/Removed Genes: Added: EGLN1, KIF1B |
| Test Name: MelanomaNext® | Test Code: 8849 | Description: Added one gene associated with melanoma | New/Removed Genes: Added: POT1 |
| Test Name: CustomNext-Cancer® | Test Code: 9510 | Description: Added four genes associated with PGL/PCC, schwannamatosis, or breast cancer. Added 6 additional limited evidence genes. | New/Removed Genes: Added: EGLN1, KIF1B, LZTR1, RECQL, FAM175A ABRAXAS1*, RINT1*, RPS20*, PALLD*, MLH3*, TERT* *Limited evidence gene |
Retired Tests
| Test Name | Test Code | Suggested Replacement/ Alternative Panel(s) |
|---|---|---|
| Test Name: BreastNext® | Test Code: 8820 | Suggested Replacement/Alternative Panel(s):BRCANext, BRCANext-Expanded |
| Test Name: GYNPlus® | Test Code: 8835 | Suggested Replacement/Alternative Panel(s): BRCANext |
| Test Name: OvaNext® | Test Code: 8830 | Suggested Replacement/Alternative Panel(s):BRCANext-Expanded |
Reporting Range Updates
In an effort to maintain our high diagnostic yield, while continuing to reduce variants of unknown significance (VUS) burden for clinicians and patients, we are also implementing minor changes to some gene-specific reporting ranges. The supporting rationale for these changes includes published literature related to mechanism of disease (POLD11, POLE1, KIT2,3, and PDGFRA4,5) and/ or data suggesting high VUS rates within certain gene regions and no internal evidence towards potential pathogenicity of these variants (PTEN6, MLH16, MSH26, and HOXB136-9).
Reporting Range Updates
| Gene(s) | Before Update | After Update |
|---|---|---|
| Genes: POLD1, POLE | Before Update: Reporting included missense variants within the exonuclease domain and other variant types regardless of their location within the gene. | After Update: Reporting will include only missense and in-frame indel variants in the exonuclease domains. Gross del/dup analyses will no longer be available for these genes. |
| Gene: PTEN | Before Update: Sequencing of the promoter region of PTEN (c.-1300 to c.-745) was performed and identified variants were reported. | After Update: We will no longer routinely report promoter VUS in PTEN. |
| Genes: MLH1, MSH2 | Before Update: Sequencing of the promoter region of MLH1 (c.-337 to c.-194), and MSH2 (c.-318 to c.-65) was performed and identified variants reported. | After Update: We will no longer routinely report promoter VUS in MLH1 nor MSH2. |
| Gene: KIT | Before Update: Reporting included all variant types throughout the gene. | After Update: Only missense and in-frame indel variants in select coding exons (8, 9, 11, 13, and 17) will be routinely reported. |
| Gene: PDGFRA | Before Update: Reporting included all variant types throughout the gene. | After Update: Only missense and in-frame indel variants in select coding exons (9, 11, 13, and 17) will be routinely reported. |
| Gene: HOXB13 | Before Update: Reporting included all variant types throughout the gene. | After Update: Only variants impacting codon 84 are routinely reported. |
For more information, ask your Ambry Genomic Science Liaison.
References:
- Briggs S & Tomlinson I. J. Pathol. 2013 Jun;230(2):148-53
- Wozniak, A. et al. Int J Cancer 2008;122:2160-2164
- Bachet JB et al. Eur J Cancer 2013 Jul;49(11):2531-41
- de Raedt, T et al. Gastroenterology. 2006, 131(6): 1907-1912
- Ricci, R et al. Mod Pathol. 2015, 28(7): 954-964
- Ambry Genetics, internal data on file
- Ewing CM et al. N. Engl. J. Med. 2012 Jan; 366(2):141-9
- Karlsson R et al. Eur. Urol. 2014 Jan; 65(1):169-76
- Maia S et al. PLoS One. 2015, 10(7): e0132728
