HerediGENE®

HerediGENE® is a CE-IVD certified multigene diagnostic test for hereditary cancer, analyzing 83 genes, including BRCA1 and BRCA2, that are associated with an increased risk of breast, ovarian, prostate, colorectal and other hereditary cancer types.

It provides clinicians with information that supports personalized surgical and therapeutic decision-making for their patients.
It can also be used to identify family members who may be at increased risk of developing cancer, enabling the implementation of individualized risk-management and surveillance strategies aimed at reducing their likelihood of developing the specific hereditary cancer.

Who should undergo genetic testing for hereditary cancer?

All individuals with breast cancer according to global guidelines (American Society of Breast Surgeons)
Individuals with any type of cancer at an early age
Individuals with bilateral breast and/or ovarian cancer
Individuals with the same type of cancer occurring in close relatives and cancer incidence in multiple generations of a family
Individuals with rare tumors at any age
Individuals with first-degree relatives who have had cancer at an early age or have a known gene mutation.
Individuals who develop hundreds or thousands of polyps
Men with breast cancer

Cancer Types
Breast, Ovarian, Pancreas, Prostate, Endometrial, Colorectal, Gastric, Gastrointestinal (GIST), Thyroid, Parathyroid, Renal-Kidney, Leiomyomatosis, Polyposis, Melanoma, Retinoblastoma, Pheochromocytoma, Paragangliomas, Wilms Tumors, Sarcomas

Cancer Syndromes
Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Cowden Syndrome, Li-Fraumeni Syndrome, Peutz-Jeghers Syndrome, Familial Adenomatous Polyposis, Von-Hippel Lindau Syndrome, Multiple Endocrine Neoplasia, Ataxia-Telangiectasia, Fanconi anemia, Noonan Syndrome, Bloom syndrome, Birt-Hogg-Dube syndrome, Nijmegen breakage syndrome, Neurofibromatosis, Hereditary Pancreatitis, Tuberous Sclerosis

Test Specifications

Individuals carrying inherited pathogenic variants have an increased risk of developing certain types of cancer. Genetic profiling therefore provides critical information that supports therapeutic decision-making, as well as the clinical management of patients and their families.

The HerediGENE® panel analyzes 83 genes implicated in cancer development, 17 of which are associated with the Homologous Recombination (HR) pathway.

This comprehensive gene panel:

Helps clinicians select the most appropriate surgical and therapeutic plan for their patients.
Identifies family members who may be at increased risk of developing hereditary cancer.
Can be used as a prognostic tool for healthy individuals who are carriers of pathogenic variants.

Why HerediGENE

The HerediGENE® test is a certified (CE-IVD) diagnostic test designed to ensure maximum sensitivity and accuracy.

It enables the simultaneous analysis of multiple genes using only a small amount of blood or saliva, within a very short timeframe and at low cost.
HerediGENE® utilizes next-generation sequencing (NGS) technology, while all detected variants are classified with the most robust and up-to-date databases curated by Genekor’s bioinformatics department.
Ongoing support is provided to both physicians and patients by our experienced scientific team at the form of Genetic Counseling, at no additional charge. A detailed recording of family medical history and genetic counseling before, during, and after the test accompanies all genetic testings.

The HerediGENE® test analyses the following genes:

	Colon	Breast	Pancreas	Ovarian	Gastric	Melanoma	Endometrial	Endocrine	Renal	Prostate	Rare Tumors	Thyroid	HRD	Associated Syndrome
Genes
APC	APC		APC		APC			APC						Familial adenomatous polyposis
ATM		ATM	ATM	ATM						ATM			ATM	Breast cancer, Ataxia-Telangiectasia
AXIN2	AXIN2													Colorectal cancer
ATRX														Alpha-thalassemia myelodysplasia syndrome
BAP1	BAP1					BAP1		BAP1					BAP1	Colorectal cancer, Uveal Melanoma
BARD1		BARD1		BARD1									BARD1	Breast cancer
BLM	BLM					BLM								Bloom syndrome
BMPR1A*	BMPR1A				BMPR1A									Polyposis, juvenile intestinal
BRAF*														LEOPARD syndrome, Noonan syndrome
BRCA1*		BRCA1	BRCA1	BRCA1		BRCA1				BRCA1			BRCA1	Pancreatic cancer, Breast-ovarian cancer, familial, Fanconi anemia
BRCA2		BRCA2	BRCA2	BRCA2		BRCA2				BRCA2			BRCA2	Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familial
BRIP1	BRIP1			BRIP1									BRIP1	Fanconi anemia, Breast cancer
CDH1		CDH1			CDH1									Hereditary diffuse gastric cancer
CDK4						CDK4								Melanoma, cutaneous malignant
CDKN1C							c	CDKN1C	CDKN1C					Beckwith-Wiedemann syndrome, Wilms Tumors, Neuroblastoma, Hepatoblastoma
CDKN2A			CDKN2A			CDKN2A								Melanoma, familial, Melanoma-pancreatic cancer syndrome
CHEK2*		CHEK2								CHEK2			CHEK2	Breast cancer
CTR9								CTR9	CTR9		CTR9			Myeloid Malignancies, Wilms Tumor
EGLN1								EGLN1			EGLN1			Paraganglioma or Pheochromocytoma
EGLN2								EGLN2			EGLN2			Paraganglioma or Pheochromocytoma
EPAS1								EPAS1			EPAS1			Paraganglioma or Pheochromocytoma
EPCAM	EPCAM		EPCAM	EPCAM			EPCAM							Colorectal cancer, hereditary nonpolyposis
EXT1											EXT1			Multiple cartilagenious exostoses 1
EXT2											EXT2			Multiple cartilagenious exostoses 2
FGFR1
FH								FH	FH					Hereditary leiomyomatosis and renal cell cancer
FLCN								FLCN	FLCN					Birt-Hogg-Dube syndrome,
GREM1	GREM1													Hereditary mixed polyposis syndrome
H3-3A
HRAS											HRAS			Costello syndrome
IDH2
KIF1B								KIF1B	KIF1B					Pheochromocytoma, Neuroblastoma
KIT

KMT2D								KMT2D	KMT2D					Neuroblastoma, Wilms Tumor
MAX								MAX	MAX					Pheochromocytoma
MDH2								MDH2	MDH2					Paraganglioma or Pheochromocytoma
MEN1								MEN1				MEN1		Hyperparathyroidism, Multiple endocrine neoplasia
MERTK
MET								MET	MET					Renal cell carcinoma
MLH1	MLH1		MLH1	MLH1			MLH1			MLH1				Lynch Syndrome
MRE11A													MRE11A	Ataxia-telangiectasia-like disorder-1
MSH2	MSH2		MSH2	MSH2			MSH2			MSH2				Lynch Syndrome
MSH3	MSH3													Colorectal adenomatous polyposis
MSH6	MSH6		MSH6	MSH6			MSH6			MSH6				Lynch Syndrome
MTAP
MUTYH	MUTYH													Familial adenomatous polyposis, Colorectal adenomatous polyposis
NBN		NBN												Breast cancer, Nijmegen breakage syndrome
NF1*		NF1	NF1		NF1			NF1	NF1					Neurofibromatosis, Neurofibromatosis-Noonan syndrome
NF2								NF2						Neurofibromatosis
NTHL1	NTHL1						NTHL1							Familial adenomatous polyposis 3
PALB2		PALB2	PALB2	PALB2										Fanconi anemia, Pancreatic cancer, Breast cancer
PDGFRA	PDGFRA				PDGFRA									Gastrointestinal stromal tumor
PMS2	PMS2		PMS2	PMS2			PMS2			PMS2				Lynch Syndrome
POLD1	POLE						POLD1							Colorectal cancer
POLE	POLE						POLE							Colorectal cancer
PRSS1			PRSS1											Hereditary Pancreatitis
PTEN*	PTEN	PTEN				PTEN	PTEN	PTEN	PTEN					Cowden syndrome
RAD50		RAD50											RAD50	Nijmegen breakage syndrome like disorder (recessive)
RAD51C		RAD51C		RAD51C									RAD51C	Fanconi anemia, Breast-ovarian cancer
RAD51D		RAD51D		RAD51D									RAD51D	Breast-ovarian cancer
RB1											RB1			Retinoblastoma
RECQL4											RECQL4			Skin Cancer, Osteosarcoma
REST								REST	REST					Fibromatosis, Wilms tumor
RET								RET	RET		RET	RET		Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasia
RNF43	RNF43													Polyposis cancer syndrome

SDHA*	SDHA				SDHA			SDHA	SDHA					Gastrointestinal stromal tumor, Paragangliomas
SDHAF2								SDHAF2	SDHAF2					Paragangliomas
SDHB	SDHB				SDHB			SDHB	SDHB					Paraganglioma and gastric stromal sarcoma, Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas, Cowden-like syndrome
SDHC	SDHC				SDHC			SDHC	SDHC					Paraganglioma and gastric stromal sarcoma, Gastrointestinal stromal tumor, Paragangliomas
SDHD#	SDHD				SDHD			SDHD	SDHD					Paraganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas, Carcinoid tumors, intestinal, Cowden syndrome
SLX4											SLX4			Fanconi anemia
SMAD4	SMAD4				SMAD4									Juvenile polyposis
SPINK1			SPINK1											Hereditary Pancreatitis
SQSTM1
STK11	STK11	STK11	STK11	STK11	STK11		STK11							Peutz-Jeghers Sydrome
TMEM127								TMEM127	TMEM127					Pheochromocytoma
TP53	TP53	TP53	TP53		TP53	TP53		TP53	TP53	TP53	TP53			Colorectal cancer, Li-Fraumeni syndrome, Ependymoma, intracranial, Choroid plexus papilloma, Breast cancer, familial, Adrenocortical carcinoma, Osteogenic sarcoma, Hepatoblastoma, Non-Hodgkin lymphoma
TRIM28								TRIM28	TRIM28					Wilms Tumor
TSC1								TSC1	TSC1		TSC1			Tuberous sclerosis
TSC2								TSC2	TSC2		TSC2			Tuberous sclerosis
VHL														Pheochromocytoma, Von Hippel-Lindau disease
WT1								VHL	VHL					Wilms tumor
XRCC2		XRCC2						WT1	WT1					Fanconi anemia, Breast cancer

Frequently Asked Questions

What types of cancer does it cover?

The examination mainly covers the occurrence of breast and ovarian, prostate, colorectal, pancreatic, kidney, gastric, thyroid and melanoma cancers.

Are BRCA genes included?

Yes, BRCA (BRCA1 & BRCA2) genes are included in addition to 81 more genes shown in the panel.

If a pathogenic mutation is found, should all family members be tested?

The results obtained by the test are useful for the entire family, as it is enough for a person to inherit a mutation from one parent, to be at increased risk of developing cancer. All in all, a child whose parent is a mutant carrier has a 50% chance of inheriting the mutation. More distant relatives are also at risk of carrying the mutation. Given these facts, individuals who may be carriers of inherited gene mutation can be identified by referral for genetic testing. Note that hereditary cancer susceptibility syndromes can be associated with many different types of cancer. Therefore, a mutation detected in the sample for breast or ovarian cancer may be associated with an increased risk of pancreatic or prostate cancer.

In how many days will the results be available?

Results will be available in 15 business days.

What type of specimen is required for the test?

Whole peripheral blood in EDTA vials (2 vials) or saliva in a special kit supplied by our company.

Is blood sampling performed at the Genekor facility?

No, the company does not perform blood samplings, so you should contact us at 210-6032138 and we will guide you.

Is the test covered by any public/private insurance?

For cost coverage, please contact the secretariat here.

Following the launch of e-prescribing for BRCA (BRCA1 & BRCA2) gene mutation testing for hereditary breast and ovarian cancer, please find below the Electronic Prescription Template with the relevant detailed e-prescribing instructions for BRCA 1,2 genes for the 4 different cases.

Case 1: Women diagnosed with Ca breast before the age of 45
Case 2: Women diagnosed with Breast Ca at age greater than or equal to 45 years with Family History
Case 3: Women diagnosed with malignant epithelial neoplasm of the ovary
Case 4: Women with a known BRCA (BRCA1 & BRCA2) mutation in the family

How do I make the payment for the test?

Payment can be made by bank transfer or debit/credit card

How do I send the sample and receive the results?

Regarding the receipt of the sample, please contact the secretariat. The results are shared with your doctor and with you via email.

How to order the test?

Our Customer Service Team is committed to answer your questions with regards to the services offered by Genekor. If you would like to order any of the tests that Genekor performs please contact us directly.

*To complete the test, you are required to complete and send the Consent form that you will find on the link below.

CONSENT FORM