INHERITED CANCERS
The causes of cancer are diverse and complex, and are responsible for a mortality rate of 13% and increasing as lifespans extend. Hereditary cancers are caused by an inherited genetic defect. These affected genes are then divided into two broad categories: oncogenes and tumor suppressor genes. The remainder of cancers are caused by spontaneous mutations of genetic material. Oncogenes promote cell growth and reproduction, and tumor suppressor genes inhibit cell division and tumor survival. In most cases, changes in several genes are required to transform a normal cell into a cancer cell. The Inherited Cancer Panel will allow the clinician or researcher to sequence the appropriate genes that are known to be high-risk cancer susceptibility genes.
These tests provide very high depth of coverage to detect common and rare mutations. Capability to detect somatic point mutations, insertions /deletions, and gene fusions. Individuals with a suspected genetic cancer risk as detected by the Inherited Cancer Panel will have a clinical advantage to affect their medical management, guide preventative measures, direct surgical options and estimate personal and familial cancer risk. Additionally, for oncology patients, the Inherited Cancer Panel may identify the individual mutations within the specific tumor and/or cancer type. This identification will assist in directing personalized treatment, therapy, options, etc. for the
patient.
COMPREHENSIVE CANCER PANEL FOR WOMEN & MEN
Our Comprehensive Cancer Panel analyzes the most relevant genes for mutations that could increase your risk breast, ovarian, colorectal, melanoma, pancreatic, prostate, stomach and uterine cancers. IT IS THE ONLY CANCER PANEL ON THE MARKET THE GUARANTEES A MAX OUT OF POCKET EXPENSE TO THE PATIENT OF ONLY $259. Testing the following genes:
APC - ATM - BAP1 - BARD1 - BMPR1A - BRCA1 - BRCA2 - BRIP1 - CDH1 - CDK4 - CDKN2A (p14ARF) - CDKN2A (p16INK4a) - CHEK2 - EPCAM - GREM1 - MITF - MLH1 - MSH2 - MSH6 - MUTYH - NBN - PALB2 - PMS2 - POLD1 - POLE - PTEN - RAD51C - RAD51D - SMAD4 - STK11 - TP53
The most common of all cancers to affect women is breast cancer, with as many as one-in-eight women contracting it during their lifetime. Breast cancer is a complex disease with many causes, however we do know that approximately 10% of all cases are due to an individual’s DNA mutation. These hereditary mutations commonly result in the early-onset of breast cancer, recurrent breast cancer and breast cancer involving both breasts. Approximately 25-50% of hereditary breast and ovarian cancer cases can be explained by mutations in the BRCA1 and BRCA2 genes.
A comprehensive hereditary breast and ovarian cancer risk assessment should include germline sequencing of the BRCA1 and BRCA2 genes as well as additional key genes with a known association of breast/ovarian cancer.
INHERITED DISEASE PANELS
The Inherited Disease PanelS allow for the identification of gene variants associated with known clinical phenotypes based on Human Gene Mutation Database (HGMD). There are ~7,000 rare inherited diseases known. Many of which are severe recessive, pediatric disorders. The number of germline mutations associated with these inherited diseases now exceed 100,000 and are focused in multiple gene regions. The Inherited Disease Panel focuses on sequencing the regions of ~4,500 genes and ~180 SNPs (single nucleotide polymorphisms) to identify the underlying mutations of the specific diseases, regardless of syndromic physiological conditions.
The Inherited Disease Panels were designed to cover the most commonly requested clinical diagnostic assays and allows diagnosis with one comprehensive test. The Inherited Diseases Panels can aid in genetic consultation of familial disorders and can also aid in potentially life-saving treatment. Testing could also prove beneficial not only for the
affected patient, but also for related family members.
These panels have been specifically designed for medical necessity and aligned with insurance reimbursement. Patient will fill out a form of Familial History and physician will submit all appropriate notes. All tests will have adequate medical necessity established with insurance providers prior to running of the test to insure no surprise bills or out pocket expenses.
WE CAN TEST FOR ALL OTHER RARE CANCERS, DISEASES OR SYNDROMES
The human exome consists of approximately 180,000 exons (approximately 30 million base pairs), which constitutes about 1% of the human genome. These protein coding regions harbor variants which are much more likely to have severe consequences than in the remaining 99% of the genome. Thus, the exome and immediately neighboring regions (UTR, splice-sites) contain ~85% of known disease-causing variants. The goal of exome resequencing is to identify the genetic variants that are responsible for Mendelian diseases such as Huntington’s disease, somatic variants linked to various cancers, and common genetically relevant diseases such as Alzheimer’s disease, and to offer a cost-effective alternative to whole -genome sequencing.
Exome resequencing can efficiently identify variants across a wide range of applications, including population genetics, genetic disease, and cancer studies. Identification of the underlying disease gene mutation(s) can have major implications for:
• Diagnosis of clinical condition
• Implications for therapeutic options
• Guidance for disease prognosis
• Identification of at-risk family members
There are many factors that make exome sequencing superior to single gene analysis including the ability to identify mutations in genes that were not tested due to an atypical clinical presentation or the ability to identify clinical cases where mutations from multiple genes contribute to the phenotype of the patient.
It doesn't matter what you run into or what you would like to screen for, we will be able to do it. Simply submit your request. No sample needed upfront. We will preauthorize these with insurance to insure the patient knows exactly what they will be responsible for before any specimen is requested.
Cancers: Diseases:
• Breast • Colorectal adenomatous polyposis
• Endometrial • Familial medullary thyroid cancer
• Ovarian • Familial adenomatous polyposis
• Colorectal • Fanconi anemia
• Gastric • Hereditary diffuse gastric cancer
• Pancreatic • Juvenile polyposis
• Prostate • Melanoma-pancreatic cancer
• Renal • Multiple endocrine neoplasia type 1 & 2
• Thyroid/Parathyroid • Neurofibromatosis type 1
• Melanoma • Nevoid basal cell carcinoma
• Brain • Osteosarcoma
Syndromes:
• Costello
• Cowden
• Li-Fraumeni
• Lynch
• Nijmegen breakage
• Peutz-Jeghers
• Von Hippel-Lindau
• Watson
