New genes, new panels: Enhancements to Invitae hereditary cancer offerings

As our commitment to providing the most up-to-date curated panels, we’ve refreshed our test menu and content to reflect the updated clinical evidence, guidelines, and expert feedback. We still offer customization of our hereditary cancer menu so that genes can be added or removed as desired.

Of important note, the hematology menu, which includes the MDS/Leukemia and Lymphoma panel, will no longer be able to be added to the same order for a hereditary cancer test. It requires a second order and sample and will be billed separately.

Available November 8, 2023

New genes added

Gene	Association
MBD4	Autosomal recessive (AR) MANS (MBD4-associated neoplasia syndrome)
FOCAD	Preliminary evidence (PE) colorectal cancer
CYLD	Autosomal dominant (AD) Brooke-Spiegler syndrome
RHBDF2	AD tylosis with esophageal cancer
TRIM28	Wilms tumor
FBXW7	PE Wilms tumor
NYNRIN	PE Wilms tumor
TRIP13	AR mosaic variegated aneuploidy
BUB1	PE AR mosaic variegated aneuploidy
DLST	PE paraganglioma-pheochromocytoma
EPAS1	PE paraganglioma-pheochromocytoma
MDH2	PE paraganglioma-pheochromocytoma
SLC25A11	PE paraganglioma-pheochromocytoma
SUCLG2	PE paraganglioma-pheochromocytoma
ELP1	PE medulloblastoma
GPR161	PE medulloblastoma
TRPV6	AR Transient neonatal hyperparathyroidism
GCM2	PE hyperparathyroidism
ARID1A	homologous recombination pathway
RAD51	homologous recombination pathway

New panels

Test name

Test code

Genes

Invitae Neuroendocrine Tumors and Adrenocortical Carcinoma Panel

57002

APC , CDKN1B, CDKN1C, EPCAM , FH, MAX, MEN1, MLH1 , MSH2 , MSH6, NF1, PMS2, PRKAR1A, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, TSC1, TSC2, VHL

Preliminary evidence: DLST, EGLN1, EPAS1, KIF1B, MDH2, SLC25A11, SUCLG2

Major updates

Test name

Test code

Genes

Invitae DNA Damage Repair Panel (Replacing Invitae Prostate Cancer HRR Panel)

444743

ARID1A, ATM, ATR, BAP1, BARD1, BLM, BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, GEN1, MLH1, MRE11, MSH2, MSH6, NBN, PALB2, PMS2, RAD50, RAD51, RAD51C, RAD51D, SLX4, WRN, XRCC2

Invitae Skin Cancer Panel (replacing Melanoma Panel)

01561

BAP1, BLM, BRCA2, CDK4, CDKN2A, EPCAM, MBD4, MITF, MLH1, MSH2, MSH6, PMS2, POT1, PTCH1, PTEN, RB1, SUFU, TP53, WRN

Preliminary evidence: FH, FLCN, MC1R, BRCA1, PTCH2

Add-on: CYLD *

*Gene analysis of CYLD may reveal an incidental diagnosis of or predisposition to frontotemporal dementia and/or amyotrophic lateral sclerosis.

Updated panels

Test name	Test code	Genes
Invitae Hereditary Colorectal Cancer Guidelines-Based Panel	01252	Added: MBD4 Preliminary Evidence: removed: RPS20; added: MLH3, RNF43
Invitae Hereditary Breast Cancer Guidelines-Based Panel	01206	Added: RAD51C, RAD51D
Invitae Hereditary Colorectal Cancer Panel	01251	Removed: CDH1 Added: MBD4 Upgraded to main panel: BLM Preliminary Evidence: removed ENG; added BUB1, FOCAD, PALB2, TRIP13
Invitae Multi-Cancer Panel	01101	Removed: CASR, CDKN1C, CEBPA, DIS3L2, GATA2, GPC3, HRAS, NBN, PHOX2B, RAD50, RECQL4, RUNX1, TERC, TERT, WRN, WT1 Added: LZTR1, MBD4
Invitae Common Hereditary Cancer Panels	01102	Added: BAP1, FH, MBD4 Removed: NBN, RAD50
Invitae Hereditary Breast Cancer Panel	01202	Preliminary Evidence: removed ABRAXAS1, AKT1, MRE11, MUTYH, PIK3CA, RINT1, SDHB, SDHD, XRCC2; added NTHL1
Invitae Hereditary Breast and Gyn Cancers Panel	01201	Preliminary Evidence: removed ABRAXAS1, AKT1, MRE11, MUTYH, PIK3CA, RINT1, SDHB, SDHD, XRCC2; added: NTHL1
Invitae Hereditary Prostate Cancer Panel	01362	Upgraded to main panel: PALB2 Preliminary Evidence: removed FANCA, RAD51C, RAD51D; downgraded to preliminary evidence NBN
Invitae Hereditary Gastric Cancer Panel	01271	Added: ATM, RHBDF2
Invitae Hereditary Paraganglioma-Pheochromocytoma Panel	01302	Upgraded to main panel: FH Preliminary Evidence: added DLST, EPAS1, MDH2, SLC25A11, SUCLG2
Invitae Hereditary Renal/Urinary Tract Cancer Panel	01361	Added: BLM, TRIM28, TRIP13 Upgraded to main panel: BUB1B, CEP57 Preliminary Evidence: removed PALB2; added CHEK2, FBXW7, MAX, NYNRIN, TMEM127
Invitae Hereditary Wilms Tumor Panel	01742	Added: BLM, BUB1B, CEP57, TP53, TRIM28, TRIP13 Preliminary Evidence: added CHEK2, FBXW7, NYNRIN, PALB2
Invitae Hereditary Thyroid Cancer Panel	01301	Upgraded to main panel: WRN Preliminary Evidence: removed MEN1, SDHB, SDHD
Invitae Hereditary Hyperparathyroidism Panel	01303	Added: TRPV6 Preliminary Evidence: added GCM2
Invitae Hereditary Nervous System/Brain Cancer Panel	01461	Added: CDKN1B, CDKN1C, CDKN2A, FH, GPC3, MAX, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127 Upgraded to main panel: GPC3 Preliminary Evidence: added DLST, EGLN1, ELP1, EPAS1, GPR161, MDH2, SLC25A11, SUCLG2
Invitae Hereditary Pediatric Solid Tumor Panel	01104	Removed: AXIN2 Added: BUB1B, CDK4, CDKN1B, CDKN2A, CEP57, MITF, TRIM28, TRIP13 Preliminary Evidence: added BUB1, CTR9, DLST, EGLN1, ELP1, EPAS1, EZH2, FBXW7, GPR161, KIF1B, MDH2, NYNRIN, PTCH2, SLC25A11, SUCLG2
Invitae Hereditary Pancreatic Cancer Panel	01261	Removed: BMPR1A, SMAD4
Invitae Chronic Pancreatitis Panel	01745	Added: TRPV6

Discontinued tests and panels

Test/ Panel	Test code
Add-on Preliminary-evidence Genes for Thyroid Cancer	01301.1
Invitae Familial Neuroblastoma Panel	01733
Add-on Preliminary-evidence Gene for Familial Neuroblastoma	01733.1
Invitae Familial Adenomatous Polyposis Test	01709
Invitae Birt-Hogg-Dubé Syndrome Test	01720
Invitae BAP1 Hereditary Cancer Predisposition Syndrome Test	01728
Invitae MUTYH-Associated Polyposis Syndrome Test	01710
Invitae Li-Fraumeni syndrome Test	01705
Invitae Multiple Endocrine Neoplasia type 1 Test	01717
Invitae Multiple Endocrine Neoplasia Type 2 Test	01718
Invitae Hereditary Leiomyomatosis and Renal Cell Cancer Test	01727
Invitae DICER1 Syndrome Test	01719
Invitae Carney Complex Test	01731
Invitae Ataxia-Telangiectasia Test	01724
Invitae Peutz-Jeghers Syndrome Test	01706
Invitae Familial Isolated Pituitary Adenoma Test	92015
Invitae Hereditary Papillary Renal Cell Carcinoma Test	01723
Invitae WAS-related Disorders Test	05318
Invitae Nijmegen Breakage Syndrome Test	01725
Invitae Bloom Syndrome Test	01730
Invitae WT1-related Disorders Test	01743
Invitae CDC73-related Conditions Test	01729
Invitae REQL4-related Disorders Test	01737
Invitae Werner Syndrome Test	01741
Invitae Small Cell Carcinoma of the Ovary Hypercalcemic Type Test	01715
Invitae Oligodontia-Colorectal Cancer Syndrome Test	01726
Invitae Simpson-Golabi-Behmel Syndrome Test	01739
Invitae Weaver Syndrome Test	01740

Frequently asked questions

What happens to genes that are no longer part of a panel?

All genes commercially available previously will remain on the assay. If a gene is no longer part of a panel, you can still order it as a single-gene product.

Why did the composition of the Multi-Cancer Panel change?

The Invitae Multi-Cancer Panel (MCP) is a large, expanded panel inclusive of genes associated with adult-onset cancers, including breast, colon, endometrial, ovarian, prostate, kidney, stomach, brain, skin, and others. To focus the MCP on nonsyndromic, adult-onset solid cancers, we removed 16 genes and added 2 new genes.

Removing 5 hematologic disorder/malignancy genes - Note that we are offering comprehensive hematologic disorder/malignancy testing panels
Removing 11 pediatric/syndromic/AR genes
Adding 2 genes for better coverage for colorectal cancer and nerve tumor

Which panels were renamed?

Please note that most updates are only the addition of the word “hereditary.” More significant updates are highlighted in gray.

Old name	New name
Formerly ‘Invitae Prostate Cancer HRR Panel’	Invitae DNA Damage Repair Panel
Formerly 'Invitae Melanoma Panel'	Invitae Hereditary Skin Cancer Panel
Formerly ‘Add-on Preliminary-evidence Genes for Melanoma’	Add-on Preliminary-evidence Genes for Skin Cancer
Formerly “Add-on ATM Gene” (combining ATM and CHEK2 in one add-on)	Add-on Breast Cancer STAT Genes
Formerly ‘Invitae Neurofibromatosis Type 1 Test’	Invitae NF1-related Conditions Test
Formerly 'Invitae Neurofibromatosis Type 2 Test'	NF2-related Schwannomatosis Test
Formerly ‘Add-on Gene with Emerging Data for Colorectal Cancer’	Add-on Preliminary-evidence Genes for Colorectal Guidelines
Formerly ‘Wilms Tumor Panel’	Invitae Hereditary Wilms Tumor Panel
Formerly 'Invitae Thyroid Cancer Panel'	Invitae Hereditary Thyroid Cancer Panel
Formerly 'Invitae Sarcoma Panel'	Invitae Hereditary Sarcoma Panel
Formerly ‘Invitae Renal/Urinary Tract Cancers Panel’	Invitae Hereditary Renal/Urinary Tract Cancers Panel
Formerly 'Invitae Prostate Cancer Panel’	Invitae Hereditary Prostate Cancer Panel
Formerly 'Invitae Pediatric Solid Tumors Panel'	Invitae Hereditary Pediatric Solid Tumors Panel
Formerly 'Invitae Pancreatic Cancer Panel'	Invitae Hereditary Pancreatic Cancer Panel
Formerly 'Invitae Nervous System/Brain Cancer Panel'	Invitae Hereditary Nervous System/Brain Cancer Panel
Formerly 'Invitae Hyperparathyroidism Panel'	Invitae Hereditary Hyperparathyroidism Panel
Formerly 'Invitae Breast Cancer Guidelines-Based Panel	Invitae Hereditary Breast Cancer Guidelines-Based Panel
Formerly 'Invitae Breast Cancer STAT Panel'	Invitae Hereditary Breast Cancer STAT Panel
Formerly 'Invitae Breast and Gyn Cancers Guidelines-Based Panel'	Invitae Hereditary Breast and Gyn Cancers Guidelines-Based Panel
Formerly 'Invitae Breast and Gyn Cancers Panel'	Invitae Hereditary Breast and Gyn Cancers Panel
Formerly 'Invitae Breast Cancer Panel'	Invitae Hereditary Breast Cancer Panel
Formerly 'Invitae Colorectal Cancer Panel'	Invitae Hereditary Colorectal Cancer Panel
Formerly ‘Invitae Gastric Cancer Panel’	Invitae Hereditary Gastric Cancer Panel
Formerly ‘Invitae Schwannomatosis Panel’	Invitae Hereditary Schwannomatosis Panel
Formerly Invitae Hereditary Diffuse Gastric Cancer Syndrome Test	Invitae Hereditary Diffuse Gastric Cancer Syndrome Panel

Can I order hematologic malignancy panels with my hereditary cancer order?

Due to the recent updates, your order of the hematologic malignancy panel, along with our latest hereditary cancer panel, will require two requisitions and two billable events. Please note that you will need two specimen kits containing acceptable specimen types when placing your order.

Alternatively, we can assist with creating custom panels that can combine hereditary solid tumor and hematologic content in one order resulting in one requisition and one billable event. Please note that the updated reportable range of the new cancer assay, including new special targets (e.g. deep intronic variants, previously not targeted in the previous assay), will not be available in this case.

Rest assured, we remain committed to providing accurate and reliable results. If you have any questions about these changes, please email our Clinical Consultation team at clinconsult@invitae.com.

Can I still order old panel versions?

Yes, all genes remain on the assay.

We can assist with creating custom hereditary cancer panels for ordering hematologic panels in conjunction with hereditary cancer solid tumor panels. Please note that the updated reportable range of the new cancer assay that include new special targets will not be available in this case.

Which paper TRFs have changed?

Following TRF will be updated:

What are the genes that have been removed and why?

Test	Gene removed	Explanation and alternative (based on evidence at the time of panel update)
Invitae Hereditary Colorectal Cancer Guidelines Panel	RPS20	Removed as a PE add-on gene as this is not in guidelines. This gene can be manually added, or you can choose the Invitae Hereditary Colorectal Cancer Panel, where it is part of PE add-on panel.
Invitae Hereditary Colorectal Cancer Panel	CDH1	Evidence does not support the association of hereditary diffuse gastric cancer with colorectal cancer.
Invitae Hereditary Colorectal Cancer Panel	ENG	Evidence does not support PE association. It can be added as a single gene product to your order.
Invitae Multi-Cancer Panel	CASR	CASR gene is not directly associated with hereditary cancer risk.
	NBN, RAD50	Genes are not strongly associated with autosomal dominant hereditary cancer risk.
	CDKN1C, DIS3L2, GPC3, HRAS, RECQL4, WRN, WT1	Genes associated with disorders with early-onset syndromic presentations
	CEBPA, GATA2, RUNX1, TERC, TERT	Genes are associated with hematological conditions.
	PHOX2B	The PHOX2B gene is associated with autosomal dominant congenital central hypoventilation syndrome (CCHS) (MedGen UID: 347052). Most cases of CCHS are due to a polyalanine repeat expansion, which is not analyzed by this test.
Invitae Common Hereditary Cancer Panel	NBN, RAD50	Genes are not strongly associated with autosomal dominant hereditary cancer risk.
Invitae Common Hereditary Cancer Panel	NBN, RAD50
Invitae Hereditary Breast Cancer Panel (PE panel) Invitae Hereditary Breast and Gyn Cancers Panel (PE panel)	RINT1, XRCC2, MRE11, ABRAXAS1	2 recent, very large case-control studies (PMID: 33471991, 33471974) found these genes were not associated with breast cancer.
	AKT1, PIK3CA, SDHB, SDHD	Based on the same paper, there is no recent or new evidence supporting an association with Cowden S.
	BLM	While Bloom S. is associated with breast cancer, we elected to not include this gene due to the rarity of this condition and potential confusion in identifying carriers in the absence of a risk among heterozygotes.
Invitae Hereditary Prostate Cancer Panel	NBN	Evidence is not strong for prostate cancer, moved to PE panel.
Invitae Hereditary Prostate Cancer Panel	FANCA RAD51C RAD51D	Genes removed due to lack of data to support association to hereditary prostate cancer, consider ordering Invitae DNA Damage Repair (DDR) panel for homologous recombination repair gene status.
Invitae Hereditary Renal/Urinary Tract Cancers Panel	PALB2	There’s insufficient evidence supporting PE association.
Invitae Hereditary Pediatrics Solid Tumor Panel	AXIN2	NCCN does not recommend surveillance/screening until adulthood.

How were the new special targets identified?

Special targets were added to this particular assay based on several sources, including, but not limited to:

client/expert feedback
published literature
data obtained from internal RNA analysis

What are the new special targets?

Special targets included for analysis are assay-dependent. We added approximately 150 new special targets to the cancer assay update. Approximately 25 were added as a result of internal RNA analysis. Should a client be interested/concerned about a particular variant, we encourage them to contact client services to confirm the variant of interest is within our guaranteed analysis range and help determine what panel would cover the region of interest.