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Genomic and Genetic Testing2018-09-21T09:17:25-06:00

Genomic and Genetic Testing

Genetics is a term that refers to the study of genes and their roles in inheritance – in other words, the way that certain traits or conditions are passed down from one generation to another. Genetics involves scientific studies of genes and their effects. Genes (units of heredity) carry the instructions for making proteins, which direct the activities of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis, Huntington’s disease, and phenylketonuria (PKU).

Genomics is a more recent term that describes the study of all of a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment. Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer because these diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. Genomics is offering new possibilities for therapies and treatments for some complex diseases, as well as new diagnostic methods.

https://www.genome.gov/19016904/faq-about-genetic-and-genomic-science/

 

Current testing offered:

CSS MTHFR/ MTR/COMT SNP testing

Color’s Hereditary Cancer Test

GX Sciences 55 SNP Nutrigenomic Panel

IvyGene

 

 

Cell Science Comprehensive testing for methylation and detoxification

The MethylDetox Profile tests critical genes in the methylation pathway. The methylation pathway is the major part of detoxification and the metabolic cycle. Based on your genetics, this profile enables you to address many important chronic medical conditions by using nutrition and nutrient supplementation. The MethylDetox Profile gives more actionable information than MTHFR testing alone, giving you a more complete picture of your body’s methylation and detoxification. The MethylDetox profile includes Smart Commentaries, detailing recommended nutrients based on your genetics.

Standard MTHFR genotyping only evaluates folic acid metabolism. Scientific research reveals that a variety of genes are involved in maintaining methionine/homocysteine balance. Genetic variations (SNPs) in these important genes influence your methylation potential. Individual methylation is monitored using homocysteine levels. Important SNPs are included to evaluate your ability to methylate neurotransmitters, DNA and toxins. More than 50% of people are affected by genetic mutations in the methylation pathway.

Methylation can play an important role in many chronic diseases. By understanding your genetics you can prevent and address these conditions with the right nutrition.

Color’s Hereditary Cancer Test analyzes the most relevant genes for mutations that could increase your risk for hereditary cancers.

Gene

Breast

Ovarian

Uterine

Colorectal

Melanoma

Pancreatic

Stomach

Prostate*

BRCA1

     

 

BRCA2

   

 

MLH1

 

 

 

MSH2

 

 

 

MSH6

 

   

 

PMS2***

 

       

EPCAM**

 

 

 

APC

     

 

 

MUTYH

     

       

MITF**

       

     

BAP1

       

     

CDKN2A

       

   

CDK4**

       

     

TP53

PTEN

 

     

STK11

 

 

CDH1

         

 

BMPR1A

     

 

 

SMAD4

     

 

 

GREM1**

     

       

POLD1**

     

       

POLE**

     

       

PALB2

     

   

CHEK2

   

     

ATM

       

 

NBN

           

BARD1

             

BRIP1

           

RAD51C

 

           

RAD51D

 

           

* Please note that research and screening guidelines for genes associated with hereditary prostate cancer are still in their early stages. It is part of the Color service to keep you and your patients updated if any information related to your patients’ results changes.

** Only positions known to impact cancer risk analyzed: CDK4 : only chr12:g.58145429-58145431 (codon 24) analyzed, EPCAM : only large deletions and duplications including 3’ end of the gene analyzed, GREM1 : only duplications in the upstream regulatory region analyzed, MITF : only chr3:g.70014091 (including c.952G>A) analyzed, POLD1 : only chr19:g.50909713 (including c.1433G>A) analyzed, POLE : only chr12:g.133250250 (including c.1270C>G) analyzed.

*** PMS2 : Exons 12-15 not analyzed.

GX Sciences 55 SNP Nutrigenomic Panel analyzes 55 gene variants hand selected by our experts and provides nutritional recommendations and health information based on scientific validation of a patient’s specific needs in these key areas:

Methylation | Neurotransmitter Processing | Mitochondrial Function | Detoxification | Inflammatory Potential | Health Precautions

Why Choose The 55 SNP Analysis Nutrigenomic Report? 

  • For patients who are overall healthy and desiring nutritional guidance
  • For patients with no significant family history of disease
  • For designing an overall health plan, fitness regimen or anti-aging program
  • For children with healthy family histories
  • For basic problems with intestinal health and allergies

Nutrigenomic (NGx) testing is the practice of utilizing genetic markers to determine a patient’s unique metabolic needs. Many people take supplements and vitamins in hopes of improving their nutrition. However, most don’t have specific knowledge or a scientific basis for their nutritional needs, and therefore end up wasting money on supplements with little to no benefit. Personalized genetic testing solves this problem by providing patients with a targeted, concrete, evidence-based account of their specific nutritional needs. Nutrigenomic services are totally safe and completely non-invasive, requiring only a cheek swab for a functional sample.

GX Sciences, tests for genetic variants (i.e. polymorphisms or SNPs) in critical metabolic pathways that affect a patient’s dietary needs. With our comprehensive, personalized report, patients can be advised on the best course of action for their dietary regimen.

The IvyGene test is a blood test that uses advanced DNA sequencing methods to detect the DNA methylation pattern of circulating tumor DNA (ctDNA) in blood samples in order to both confirm the presence of cancer and give quantitative data.

The IvyGene Score reflects the relative amount of cell-free DNA that contains these methylation markers as a percentage of the total cell-free DNA present. The IvyGenescore is derived from a composite average of methylated vs unmethylated cell-free DNA of specific target sites.

The IvyGene™ test has been validated with four (4) cancer tissues of origin: breast, colon, liver and lung cancers. The presence of other cancer types may also result in an elevated IvyGene™ Score.

IvyGene is intended to be used in conjunction with

  • Abnormal Imaging
  • Positive BRCA 1&2
  • Biopsy
  • Elevated Genetic Markers

IvyGene May Also Be Used for Certain Situations:

  • High risk populations
  • Quantifying methylation of cell-free DNA
  • Remission monitoring
  • Supplementing other diagnostic tests