Our Clinical Services

Genetic Testing

Whether you are looking for prenatal testing, want to know your risk for heritable cancers or rare diseases, or need genetic testing for cardiac, kidney, or neuropsychological conditions, trust Psomagen’s precision medicine team to deliver actionable results.

Psomagen's extensive list of genetic panels offer diverse screening options.

What is genetic testing?

Genetic tests identify changes in genes, chromosomes, or proteins. These results can confirm or rule out a suspected genetic condition or help assess a person’s chance of developing or passing on a certain disorder.

Genetic testing involves looking for changes in DNA sequences to identify variations (mutations) that can cause or increase the risk of a disease. These tests can be narrow or large in scope, analyzing an individual DNA building block (a nucleotide), one or more genes, or all of a person’s DNA (which is known as their genome).

What Can You Get from Our Tests?

Psomagen’s diverse testing menu is driven by quality analysis, expert interpretation, and actionable reporting. No matter the type of testing you are looking for, we can help you find the genetic answers you are looking for.

Diagnostic tests are used to diagnose or exclude a particular genetic or chromosomal disorder. Diagnostic tests can be done before a baby is born or at any point in their life. Diagnostic tests are not available for every gene or for every genetic disorder. Test results can affect a person’s decisions about their health care and the treatment of their disorder.
Carrier tests identify individuals who are carriers of a single copy of a genetic mutation that, when expressed in two copies, results in the development of a genetic disorder. Carrier testing is offered to people with a family history of genetic disorders, as well as to individuals in certain ethnic groups who have an increased risk of certain genetic conditions. Carrier testing can provide information on a couple’s risk of having a baby with a genetic condition if both parents are tested.
Prenatal tests detect changes in a fetus’s genes or chromosomes before the baby is born. Prenatal testing is available during pregnancy if there’s an increased risk of the baby developing a genetic or chromosome disorder. Sometimes prenatal testing can reduce a couple’s uncertainty or help them decide whether or not to proceed with a pregnancy. However, prenatal testing cannot diagnose all inherited disorders or birth defects.
Predictive and presymptomatic tests detect gene mutations that are linked to disorders that manifest later in life, after birth. These tests are beneficial for individuals who have a family member affected by a genetic disorder, but do not exhibit any symptoms of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase an individual's susceptibility to developing disorders with a genetic foundation, such as certain types of cancer.

Presymptomatic testing can determine whether an individual will develop a genetic disorder, such as hereditary hemochromatosis (a disorder characterized by excessive iron levels), before any signs or symptoms become apparent. The outcomes of predictive and presymptomatic testing can furnish valuable information regarding an individual's risk of developing a specific disorder, aiding in the decision-making process concerning medical care.

Prenatal Panels

Cardiac NGS Panels

Cardiomyopathy

129 genes

Arrhythmia

76 genes

Kidney NGS Panels

Polycystic Kidney Disease

59 genes

Renal/Urinary Cancer

28 genes

Neuropsychological NGS Panels

Epilepsy

24 genes

Parkinson's / Alzheimer's / Dementia

35 genes

Hereditary Cancer Panels

Hereditary Oncology

41 genes
Learn More →

Breast

20 genes

Breast / Ovarian

25 genes

Ovarian

19 genes

Colorectal

22 genes

Endometrial 1

11 genes

Gastric

15 genes

Pancreatic

22 genes

Hematologic Malignancy

16 genes

Melanoma

14 genes

NS / Brain

27 genes

Prostate

12 genes

Paraganglioma-Pheochromocytoma

11 genes

Sarcoma

26 genes

Thyroid

7 genes

Genetic Panel Best Practices

Turnaround Time

10–21 calendar days (14 business days on average)

Storage & Stability

Store saliva at room temperature, avoiding lengthy refrigeration and following the package insert, we recommend that the specimen be mailed to Psomagen soon after collection.

Current Sensitivity & Specificity

99%

Sample Labeling

The collection tube must be labeled with:

The patient’s full name
One additional unique identifier: Date of birth (MM/DD/YYYY), Medical record number, IB number (if placed by submitting clinician), Psomagen test order ID (RQ#)
Specimen collection date

Methodology

Alignment and detection of variants were performed with DRAGEN bioinformatics pipeline Version 4.2.4, with GRCh38 as the human genome reference. All called variants are assigned a quality value for filtering. Based on validation studies, the pipeline showed precision and detection, >99% and >85% respectively, for SNVs in areas with coverage greater than 30x and high mapping quality.

Limitations

Sequencing lab processes and technologies differ and may affect the quality of the raw data provided to Psomagen and the accuracy of test results. Such limitations include but are not limited to:

Regions with low or no coverage,
Regions with mapping problems,
False positive and false negative errors from wet lab processes.

Additional Limitations Include:

Certain variations such as chromosomal changes, copy number variations, deletions or insertions (size >5bp), short tandem repeat (STR), and other complex variants, are not optimally detected with NGS. An additional lab test may be required to detect them.
Psomagen relies on dozens of data layers taken from various public and private resources which sometimes may be erroneous and affect results provided by Psomagen.
The interpretation provided by Psomagen for variants which are unknown in the scientific literature is provided as a suggestion for further investigation, and not as a definitive clinical result. It requires additional medical discretion by the ordering professional.
NGS interpretation by Psomagen is not a diagnostic test and results are provided for informational use alone. Errors of false positive or false negative may occur. All decisions regarding medical treatment based on the results of the tests may only be made by a qualified medical professional.
The genetic testing results are based upon scientific evidence available at the moment. Future research may reveal changes in the interpretation of previously obtained genetic testing results.

TURNAROUND TIME

Results You Need, When You Need Them

The team at Psomagen knows that your results can be life changing. We make every effort to deliver results within 10 business days.

Expedited testing fast-tracks your sample for time-sensitive treatment decisions.

Clinical Services

Clinical Genetic Testing