Multi-gene assay for Hereditary Cancer (including BRCA genes)
HerediGENE® is a diagnostic multi-gene assay for hereditary cancer that Evaluates 83 genes and 17 homologous recombinations, including BRCA 1/2, associated with elevated risks of breast, ovarian, prostate, colorectal, and other hereditary malignancies.
This test serves as a preventive tool. Individuals diagnosed with a harmful mutation may undergo preventative surgery and medication, significantly decreasing the probability of acquiring this malignancy.
It provides the physician with information for individualized surgical and pharmacological interventions for their patients.
Ultimately, it can be utilized to identify relatives predisposed to cancer.
Who is eligible for genetic testing for hereditary cancer?
- All individuals diagnosed with breast cancer as per international norms established by the American Society of Breast Surgeons.
- Individuals diagnosed with any form of cancer at a young age
- Individuals with bilateral breast and/or ovarian carcinoma
- Individuals exhibiting the same cancer type in close relatives and a familial prevalence of cancer throughout numerous generations.
- Persons with uncommon neoplasms at any age
- Individuals with first-degree relatives diagnosed with cancer at a young age or possessing a recognized genetic abnormality.
- Individuals who have many polyps
- Male individuals diagnosed with breast cancer
Test Specifications
- An individual with a hereditary pathogenic mutation has an elevated chance of acquiring specific types of cancer. Consequently, the gene profile provides critical insights for patient therapy and self-management for individuals and their families.
- The HerediGENE® evaluates 52 genes associated with cancer susceptibility, 21 of which pertain to Homologous Recombination (HR).
- This assessment assists physicians in selecting the optimal surgical and pharmacological strategy for their patients.
- It determines which family members possess an elevated risk of developing cancer.
Additionally, it identifies individuals who do not possess a harmful mutation, alleviating their anxiety regarding the potential for hereditary cancer.
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 | 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 | POLD1 | 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 | VHL | VHL | Pheochromocytoma, Von Hippel-Lindau disease | |||||||||||
| WT1 | WT1 | WT1 | Wilms tumor | |||||||||||
| XRCC2 | XRCC2 | Fanconi anemia, Breast cancer |
The HerediGENE® test is engineered to provide optimal sensitivity and precision. Advanced Next Generation Sequencing Technology (NGS) is employed, and all results are categorized utilizing the most dependable and current databases from our Bioinformatics section.
A multitude of genes is concurrently evaluated with a minimal volume of blood or saliva, achieved rapidly and economically.
Our competent scientific team offers ongoing support to both the physician and the patient.
Furthermore, complimentary Genetic Counselling is offered. Comprehensive family medical history and genetic counseling prior to, during, and subsequent to the examination.
The HerediGENE® test examines the subsequent genes : Gene Panel
Potential Outcomes from Genetic Analysis
A Negative Result signifies that no clinically relevant mutation has been detected.
A Positive Result signifies the identification of a harmful mutation, warranting medical therapy in accordance with international guidelines for bearers of this mutation.
AA Variant of Unknown Significance (VUS) denotes discoveries that remain unclarified according to the current international literature. Medical management relies on individual and familial medical history.
Download Sample Results Report
The assessment primarily addresses the prevalence of breast, ovarian, prostate, colorectal, pancreas, kidney, gastric, thyroid, and melanoma cancers.
Indeed, the panel encompasses the BRCA1 and BRCA2 genes, along with an additional 50 genes.
The test results are beneficial for the entire family, as inheriting a mutation from just one parent elevates the risk of acquiring cancer. A kid of a mutant carrier parent has a 50% probability of inheriting the mutation. More remote relatives may also possess the mutation. Based on these facts, individuals potentially carrying inherited gene mutations can be discovered by referral for genetic testing. Hereditary cancer susceptibility disorders may be linked to many cancer forms. A mutation identified in a sample for breast or ovarian cancer may correlate with an elevated risk of pancreatic or prostate cancer.
Results will be accessible after 20 business days, next business day after the sample is delivered to the laboratory.
Whole peripheral blood in two EDTA vials or saliva in a specialized kit provided by our firm.
Whole peripheral blood in two EDTA vials or saliva in a specialized kit provided by our firm.
Please reach out to the secretariat concerning the reception of the sample. The results are communicated to both you and your doctor by email.
Our Customer Service Team is dedicated to addressing your inquiries concerning the services provided by Sciparm. For inquiries regarding the ordering of any tests, please reach out to us directly.
