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Turn Your Cells Into Data

With Cellbiotix DNA and plasma extraction you can:

  • Identify inherited genetic risk – to establish  your genetic baseline and predispositions

  • Identify accumulated genetic risk – to locate changes to your genes and cells.

  • Track your health – to map the changes in your health over time to see if those changes are intersecting with your genetic predispositions.

  • Increase visibility to make linkages and associations between symptoms and conditions.

  • Access Cellbiotix  analytic and treatment opportunities.

GENETIC TESTING

PANEL DESCRIPTIONS

Common Hereditary Cancer Panel (Dx)

The Common Hereditary Cancers Panel analyzes 47 genes associated with cancers of the breast, ovary, uterus, prostate, and gastrointestinal system, which includes the stomach, colon, rectum, small bowel, and pancreas. The panel is designed to maximize diagnostic yield for individuals with a personal or family history of mixed cancers affecting these organ systems.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. Heterozygous Pathogenic/Likely pathogenic germline variants in RAD50 and NBN are not clearly associated with an increased risk for cancer; however, such variants may qualify certain patients for clinical trials targeting homologous recombination deficient tumors. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

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Comprehensive Carrier Screen (Dx)

The Comprehensive Carrier Screen is appropriate for those of all ethnicities who want an expanded assessment of their risk of having a child affected with a genetic condition. This screen is not intended for diagnostic use.

This panel includes:

  • Disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG).

  • An extended list of disorders recommended by national Jewish societies.

  • Disorders that may have a severe presentation.A selection of disorders found on the newborn screen.

  • Several X-linked disorders, including Fragile X syndrome.

Genetic Health Screen (Proactive)

Cardiovascular, Multi-cancer and Metabolic Diseases

This test is intended for use to screen individuals for hereditary conditions that, if detected early, may have effective medical interventions and preventive measures. Conditions tested include:

  • Cancers.

  • Cardiovascular diseases.

  • Metabolic diseases.

  • Other medically actionable conditions.

This is our most comprehensive screening panel, including all the genes analyzed in the Cancer Screen and Cardio Screen, as well as other genes associated with medically actionable conditions. All 78 genes identified as medically actionable by the American College of Medical Genetics and Genomics (ACMG; Miller, et al. 2022) are captured in this panel.

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78 Gene Actionable Disorders Panel (Proactive)

This test is intended for use to screen individuals for hereditary conditions identified as medically actionable by the American College of Medical Genetics and Genomics (ACMG; Miller, et al. 2022). Conditions tested include:

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  • Cancers.

  • Cardiovascular diseases.

  • Metabolic diseases.

  • Other conditions with established clinical management guidelines.

  • Disorders tested.

  • PTEN-related conditions.

  • Atrial fibrillation.

  • Biotinidase deficiency.

  • BRCA1/BRCA2-Associated Hereditary breast and ovarian cancer (HBOC) syndrome.

  • Brugada syndrome (BrS).

  • Carvajal syndrome.

  • Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).

  • Constitutional mismatch repair deficiency syndrome (CMMR-D).

  • Ehlers-Danlos syndrome (EDS).

  • Emery-Dreifuss muscular dystrophy (EDMD).

  • Fabry disease.

  • Familial adenomatous polyposis (FAP), Attenuated familial adenomatous polyposis (AFAP).

  • Familial erythrocytosis.

  • Familial hypercholesterolemia (FH).

  • Glycogen storage disease type II (GSDII), also known as Pompe disease.

  • Hereditary hemochromatosis.

  • Hereditary hemorrhagic telangiectasia (HHT).

Monogenic Diabetic Panel (Dx)

Genetic testing for genes associated with syndromic and nonsyndromic causes of monogenic diabetes.

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Monogenic Obesity Panel (Dx)

The Monogenic Obesity Panel analyzes genes associated with severe and early-onset obesity which may be isolated due to endocrine abnormalities or associated with syndromic features. This panel may be appropriate for individuals with hyperphagia and endocrine dysfunction and individuals with obesity and phenotypic changes consistent with a syndromic etiology. Genetic testing of these genes may confirm a suspected diagnosis and help guide treatment and management decisions.

Renal/Urinary Tract Cancers Panel (Dx)

The Renal/Urinary Tract Cancers Panel analyzes genes associated with an increased lifetime risk of developing cancers of the urinary tract (kidneys, renal pelvis, ureters, bladder and urethra). These genes were selected based on the available evidence to date to provide the most comprehensive panel for hereditary renal/urinary tract cancers. Many of these genes are also associated with an increased risk of other cancer types.

The primary panel includes 25 genes associated with an increased lifetime risk of developing cancers of the urinary tract (kidneys, renal pelvis, ureters, bladder, and urethra). In addition to the primary panel, clinicians can also choose to include 7 genes that have preliminary evidence of an association with these cancer types. At this time, the association of these genes with renal/urinary tract cancers remains uncertain; however, some clinicians may wish to include genes that may prove to be clinically significant in the future. These genes can be added at no additional charge.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

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Pharmacogenomics (Dx)

Pharmacogenomics (PGx) testing is a tool used to aid in selecting appropriate medication and dosing options. It provides information on certain genetic changes or variations that affect how patients metabolize, absorb, or respond to particular medications.

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