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COVID-19 Testing(PCR) 

Hereditary Cancer Testing(CGx)

Pharmacogenomics Testing(PGx)

Hereditary Cancer Testing(CGx) 

We offer a DNA Cancer testing covered by Medicare with a buccal mouth swab. 

Germline genetic testing of BRCA1 and BRCA2 is available to identify individuals at increased risk for breast and ovarian cancers, as individuals with an inherited cancer syndrome may benefit from screening and prevention strategies to reduce their risk. The prevalence of BRCA mutations in the population is estimated between 1 in 300 and 1 in 800; however, specific mutations known as “founder mutations” occur more often in populations founded by a small ancestral group, including Ashkenazi (Eastern European) Jews, French Canadians, and Icelanders. The prevalence of BRCA mutations in the Ashkenazi Jewish population is approximately 1 in 40. Three recurrent BRCA1 and BRCA2 mutations have been identified in Ashkenazi Jewish individuals (i.e., a genetically distinct population of Jewish people of eastern and central European ancestry) and make up the vast majority of BRCA mutations that occur in this population.

Cancer may be the result of genetic alterations which often result in the deregulation of pathways that are important for various cellular functions including growth, maintenance of DNA integrity, cell cycle progression, and apoptosis (programmed cell death), among others. Among women in the United States, breast cancer is the most common cancer diagnosis, excluding squamous and basal cell skin cancers. Breast cancer is the second leading cause of cancer deaths among women, after lung cancer. Epithelial ovarian cancer is the leading cause of death from gynecologic cancer in the United States and the fifth most common cause of cancer mortality in women. Epithelial ovarian cancer comprises the majority of malignant ovarian neoplasms.

 

While most breast cancers are considered sporadic, up to 10% are due to specific mutations in single genes that are passed down in families. Similar rates are reported for ovarian cancer. Specific patterns of breast and ovarian cancer are linked to the BRCA1 and BRCA2 genes, which cause BRCA-related breast and ovarian cancer syndrome. BRCA-related breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome characterized by the following:

 

  • Multiple BRCA-related breast and ovarian cancer syndrome related cancers within a family (e.g., invasive ductal carcinoma, ductal carcinoma in situ, epithelial ovarian cancer, Fallopian tube cancer, primary peritoneal cancer, melanoma, prostate cancer with Gleason score greater than or equal to 7, pancreatic cancer and melanoma);

  • Cancers typically occur at an earlier age than in sporadic cases (i.e, cancers not associated with inherited genetic risk);

  • Two or more primary cancers in a single individual. This could be multiple primary cancers of the same type (e.g., bilateral breast cancer) or primary cancers of different types related to BRCA-related breast or ovarian cancer (e.g., breast and ovarian);

  • Cases of male breast cancer.

 

Mutations in the BRCA1 and BRCA2 genes are passed down in families through an autosomal dominant inheritance pattern meaning that the associated cancer predisposition can be inherited through either the mother’s or father’s side of the family and transmitted by a male or female. When a parent carries a BRCA mutation, there is a 50% chance of passing down the gene mutation with every pregnancy. Although the risk of inheriting the predisposition from a parent who carries a mutation is 50%, not everyone with an inherited mutation will develop cancer. The likelihood that a woman with a mutation will develop a related cancer (i.e., penetrance of a BRCA mutation) is estimated between 41% and 90% and is much lower for men. The risk of developing cancer depends on numerous variables, including the penetrance of the specific mutation, the genetic makeup of the individual, environmental risk factors, the gender of the individual and their age.

Who Qualifies For CGx Testing?

An individual with a personal or family history of one or more of the following (especially if early onset and can include multiple primary cancers in same individual):

  • breast cancer

  • pancreatic cancer

  • prostate cancer (Gleason score greater than or equal to 7)

  • melanoma

  • sarcoma

  • adrenocortical carcinoma

  • brain tumors

  • leukemia

  • diffuse gastric cancer

  • colon cancer

  • endometrial cancer

  • thyroid cancer

  • kidney cancer

  • dermatologic manifestations or macrocephaly

  • hamartomatous polyps of gastrointestinal (GI) tract

  • An individual that has multiple close family members with a cancer diagnosis under the age of fifty 

  • An individual that has three or more close family members with different types of cancer 

  • An individual that has had family that has previously had cancer genetic testing and mutations were identified

 

Some people are genetically more likely to develop certain types of cancers, and cancer genomics helps to uncover these risks.

Pharmacogenomics Testing(PGx) 

We offer a Pharmacogenomics Test(PGx) covered by Medicare with a buccal mouth swab. 

Pharmacogenomics (sometimes called pharmacogenetics) is a field of research that studies how a person’s genes affect how he or she responds to medications. Its long-term goal is to help doctors select the drugs and doses best suited for each person. It is part of the field of precision medicine, which aims to treat each patient individually.

Just as our genes determine our hair and eye color, they partly affect how our bodies respond to medicine.

Genes are instructions, written in DNA, for building protein molecules. Different people can have different versions of the same gene. Each version has a slightly different DNA sequence. Some of these variants are common, and some are rare. And some affect health, such as those gene variants linked to certain diseases.

Scientists know that certain proteins affect how drugs work. Pharmacogenomics looks at variations in genes for these proteins. Such proteins include liver enzymes that chemically change drugs. Sometimes chemical changes can make the drugs more—or less—active in the body. Even small differences in the genes for these liver enzymes can have a big impact on a drug’s safety or effectiveness.

The Food and Drug Administration (FDA) monitors drug safety in the United States. It now includes pharmacogenomic information on the labels of around 200 medications . This information can help doctors tailor drug prescriptions for individual patients by providing guidance on dose, possible side effects, or differences in effectiveness for people with certain gene variants.

Drug companies are also using pharmacogenomics to develop and market medicines for people with specific genetic profiles.By studying a drug only in people likely to benefit from it, drug companies might be able to speed up the drug’s development and maximize its therapeutic benefit.

Who Qualifies For PGx Testing?

Currently, doctors prescribe drugs based mostly on factors such as a patient’s age, weight, sex, and liver and kidney function. For a few drugs, researchers have identified gene variants that affect how people respond. In these cases, doctors can select the best medication and dose for each patient.

Additionally, learning how patients respond to medications helps to discern the different forms of their diseases.

Anyone with a diagnosis of the following:

Heart Disease

  • Atherosclerotic heart disease of native coronary artery

  • Ischemic cardiomyopathy

  • Silent myocardial ischemia

  • Atherosclerosis of autologous artery coronary artery 

  • Atherosclerosis of other coronary artery

  • Other forms of chronic ischemic heart disease

  • Cerebral infarction due to thrombosis

  • Occlusion and stenosis of left, middle, right middle, bilateral middle, and other cerebral arteries

  • Long term (current) use of antithrombotics/antiplatelets

Behavior Health

  • Bipolar disorder (mild, moderate, severe, with or without psychotic features) current, in partial remission, full remission

  • Major depressive disorder single episode or recurrent (mild, moderate, severe, with or without psychotic features/symptoms

  • Other specified depressive episodes

  • Huntington's disease

Embolism and Thrombosis

  • Chronic embolism and thrombosis of unspecified vein

Rheumatoid arthritis

  • Felty's syndrome of right or left shoulder/elbow/wrist/hand/hip/knee/ankle

  • Rheumatoid lung disease with rheumatoid arthritis of right or left shoulder/elbow/wrist/hand/hip/knee/ankle

  • Rheumatoid vasculitis with rheumatoid arthritis of right or left shoulder/elbow/wrist/hand/hip/knee/ankle

  • Rheumatoid heart disease with rheumatoid arthritis of right or left shoulder/elbow/wrist/hand/hip/knee/ankle

  • Rheumatoid myopathy with rheumatoid arthritis of right or left shoulder/elbow/wrist/hand/hip/knee/ankle

  • Rheumatoid polyneuropathy with rheumatoid arthritis of right or left shoulder/elbow/wrist/hand/hip/knee/ankle

  • Rheumatoid arthritis of right or left shoulder/elbow/wrist/hand/hip/knee/ankle/foot without organ or systems involvement

  • Rheumatoid arthritis with rheumatoid factor of right or left shoulder/elbow/wrist/hand/hip/knee/ankle/foot without organ or systems involvement

  • Other rheumatoid arthritis with rheumatoid factor of right or left shoulder/elbow/wrist/hand/hip/knee/ankle

  • Rheumatoid arthritis without rheumatoid factor of right or left shoulder/elbow/wrist/hand/hip/knee/ankle/vertebrae 

  • Adult-onset Still's disease

  • Rheumatoid bursitis and/or Rheumatoid nodules of right or left shoulder/elbow/wrist/hand/hip/knee/ankle/vertebrae 

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