Services

Hereditary Cardiac Assessment Test

What is genetic testing for heart disease?

This test is preventative genetic test used to determine if a person with our without a personal or family history of a cardiac condition has a genetic mutation that indicates specific risks to developing heart disease. 

 The term "prevention" encompasses a wide range of activities, from broad public anti smoking campaigns to immunizing infants and children against infectious diseases. The term "preventive services" usually pertains to clinical services, such as those typically provided in a health care setting. Genetic testing is also performed as a pre-symptomatic test in order to determine whether an individual with a family history of a cardiac condition while displaying no current symptoms, has a gene mutation associated with the disease. Also, it is intended for  post-symptomatic genetic testing to identify the potential underlying cause of an existing cardiac disease. 

How many genes does the Hereditary Cardiac Assessment test for?

The hereditary cardiac condition assessment tests for 174 genes with known cardiac disease correlations. It is interesting to note that, 25% of patient’s tested have a confirmed pathogenic variance (gene mutation.) 

How are genetic tests regulated? 

U.S. laboratories that perform health-related testing, including genetic testing, are regulated under the Clinical Laboratory Improvement Amendments (CLIA) program. Laboratories that are certified under CLIA are required to meet federal standards for quality, accuracy, and reliability of tests. Real Laboratory is CLIA certified .

IMPORTANT: According to the Centers for Disease Control and Prevention (CDC) about 610,000 people die of heart disease in the United States every year. That equates to 1 in every 4 deaths on a yearly basis. Every year about 735,000 Americans have a heart attack, with 210,000 previously suffering from one or more attacks. On average every 40 seconds someone in the United States has a heart attack. Additionally, according to the American Heart Association (AHA) cardiovascular disease (CVD) claims the life of a woman about every 80 seconds. The good news is 80% of cardiovascular disease is preventable with education and action. Reaction- Predictive genetic testing involves determining whether a family gene mutation is present or absent in family members who are at risk for developing genetic heart disease, despite currently appearing healthy. If a mutation is present, that person is at risk for developing a genetic heart condition and should have regular examinations to look for evidence that a disease is developing. If a mutation is absent, that individual is unlikely to develop disease but should still be thoroughly evaluated in case there are any changes in how they feel or any potential concerns from their doctor.

Solution:  Early detection of heart disease is vital and can mean the difference between life and death. Being aware of early signs can increase your chances of catching these threats at an earlier stage. If a genetic mutation is present a genetic counselor will work with your doctor to create unique care plan that will provided to you with specialized recommendations on dietary changes, exercise regiments,  and Medical management suggestions based on those results.  

Parkinson's Dementia, Alzheimer's Genetic Predisposition Test

All 47 genes in this panel have been evaluated for the presence of selected genetic variants that predispose to Parkinson's-Dementia-Alzheimer's diseases.

Early Onset Familial Alzheimer's disease

 (e/fad) is hereditary and marked by Alzheimer's disease symptoms that appear at an unusually early age. Symptoms can start in a persons's thirties, forties and fifties ( and very rarely in the late twenties).

Having a pathogenic mutation in one of chosen genes virtually guarantees that one will develop early on set Alzheimer's disease.

Late Onset Alzheimer's Disease

APOE e4,ACE,PICALM

Late onset Alzheimer's disease is a condition characterized by memory loss, cognitive decline and personality changes developing after the age of 65, One in ten Americans age 65 and older is affected by Alzheimer's disease. 

The most important risk factor for Alzheimer's disease is a gene call Apolipoprotein E, or APOE.

This gene has a number of different alleles (alternative form of a gene, one member or a pair). called e2,e3,and e4, e2 and e3 protect against Alzheimer's, whereas e4 increases your risk of developing it. Every individual has two copies of this allele, and combination you have determines how likely you are to develop the disease.

Dementia

Fontotemoral Dementia

Genes: AAAS, CSF1R, DCTN1, DNMT!, GRN, LOC105375056, MAPT, NOTCH3, POLG, PRNP, SNCA, SNCA-AS1, SNCB, TREM2, TREML1, TYROBP

Parkinson's

Genes ATP13A2, AUP1, BAIAP2L2, CSF1R, DCTN1, EIF4G1, FBX07, GBA, GBF1, GCH1, HTRA2, LOC105377329, LOXL3, LRRK2, NOTCH3, PACRG, PARK7, PINK1, PINK1-AS, PLA2G6, POLG, PRKN, PRKRA, SLC6A3, SNCA, SNCA-AS1, SNCB, TAF1, TH, UCHL1, VPS35

Many Parkinson's disease symptoms occur when nerve cells die or become impaired. Normally, these cells produce a chemical messenger called dopamine which transmits signals within the brain to produce smooth physical movements. when these dopamine-producing neurons are damaged or die, communication between the brain and muscles weakens. Eventually, the brain becomes unable to control muscle movement. Some gene mutations appear to disturb the cell machinery that breaks down unwanted proteins in dopamine-producing neurons. As a result, unwanted proteins accumulate, leading to the impairment or death of these cells. Other mutations may affect the function of mitochondria, the energy-producing structures within cells. As a byproduct of energy production, mitochondria make unstable molecules called free radicals that can damage cells. Cells normally counteract the effects of free radicals before they cause damage, but mutations can disrupt this process.

What is Pharmacogenetics (PGx) Testing?

A non-invasive saliva sample can help determine a patient’s unique genetic makeup and their response to certain medications. Genetic mutations can cause either higher or lower rates of metabolism for known drugs.

A non-invasive saliva sample can help determine:

• Whether a medication may be an effective treatment for you
• What the best dose of a medication is for you
• Whether you could have serious side effects from a medication

Adverse Drug Reactions (ADR is the 4th leading cause of death in the United States).

According to the FDA, each year, approximately 4.5 million Americans visit their doctors or the emergency room due to ADR.

The laboratory looks for changes or variants in one or more genes that can affect your response to certain medication, how quickly your body 

metabolizes, or filters, any given drug so the physician has the ability prescribe the right drug for the right patient.

Panels Tested

· Personalized Medicine Panel Comprehensive Panel

· Cardiology & Thrombophilia Panel

· Pain Panel

· Psychiatry Panel