Baby Genes Diagnostic Tools
Reflex Testing for Abnormal Biochemical Newborn Screening ResultsWith fast and affordable genetic reflex testing, physicians can receive follow-up and confirmatory results within the first few days of life. Using targeted-sequencing technology, genetic information can be obtained quickly to aid in the diagnostic process. Rapid results are especially important for highly time-sensitive conditions.
Reliable Newborn Screening for NICU infants
Biochemical screening results for extremely low birth-weight babies can be problematic and unreliable. Baby Genes performs genetic testing which is not impacted by low birth weight and provides actionable information which may be necessary for treatment. Quick confirmation of false positives provides piece of mind for worried parents as well as reduced load on the health care system.
Trio TestingTrio testing is a useful diagnostic tool to trace the inheritance pattern of a particular variant or condition. This type of testing can be particularly useful in patients whose signs and symptoms are believed to be related to inherited diseases of single-gene etiology (Mendelian diseases). This may also be beneficial for patients presenting with undiagnosed symptoms because the evaluation of multiple genetic markers may clarify or refine the diagnosis by identifying genetic markers within the parents. Trio testing is offered at a discounted cost. Please contact us to learn more.
Proactive Medicine: Supplemental Newborn Screening
Provide your patient with quick and comprehensive newborn screening for pre-symptomatic detection. Because Baby Genes is genetically testing, the time of sample collection is irrelevant to result accuracy. A test specimen (dried-blood spots) can be collected immediately following birth to ensure results within the first days of a child’s life. With a turn around time within 96 hours, clinically significant genetic findings of 100 targeted genes can provide physicians with actionable data for a diagnosis. Baby Genes performs targeted sequencing through Next-Generation technology to ensure fast and direct results for physicians and their patients. Together with metabolic results, physicians have access to phenotypic and genotypic information within the first week of their patient’s life.
Carrier Screening: Help your Patient with Family Planning
Whether or not your patient has familial indications of a condition, family planning through carrier screening can be greatly beneficial. Pre-conceptive parental screening can provide families with risk factor information. With a targeted-gene panel, results will only include genes related to actionable conditions recommended by the ACMG for newborn screening. Carrier screening results are available as soon as 7-10 days following sample receipt.
The ProcessWe know that getting highly targeted, accurate, and rapid results are critical when it comes to screening newborns for genetic diseases, and ensuring the best care for your patients. Here’s what you can expect with Baby Genes diagnostic and reflexive genetic testing:
1. Collect sample (we accept many sample types to include dried blood spots, whole blood, oral rinse, saliva and buccal swabs
2. Fill out Test Requisition Form and ensure informed consent is obtained
3. Return specimen to the Baby Genes lab
4. Baby Genes will follow up with any questions or clarifications
5. Results will be available depending upon the test ordered (~5 days for newborn or reflexive and ~10 days for carrier testing)
Physician Frequently Asked Questions (FAQs)
How is this test different than the current Newborn Screening Test?
- The traditional test uses multiple assays to measure metabolic markers or analytes to identify whether there is a potential problem associated with known metabolic conditions. Baby Genes test is a genetic test that identifies variations in the genetic code known to be tied to those conditions. The metabolic markers in the blood are irrelevant.
- Looking for metabolic markers precludes the ability to detect genetic conditions that don’t have metabolic markers. As new conditions are identified and can be tied to specific genes, Baby Genes can add those to the screening panel.
- Dried blood spot sample collection is sensitive to errors in the collection process including layering, contamination from urine or other bodily fluids, contamination from glove powder, inadequate drying and oversaturation to name a few. Baby Genes can use most samples that have been rejected by the traditional screening process since we are looking for defects in the underlying genetic code and not the by-products of those defects.