Fast, reliable genetic testing for your youngest patients

A powerful and affordable tool to ensure timely, accurate diagnosis of genetic conditions
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Baby Genes Diagnostic Tools

Reflex Testing for Abnormal Biochemical Newborn Screening Results

With 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 Testing

Trio 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 101 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 Process

We 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:

Process Flow

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.
Where can I find more information about the conditions that will be tested?

You can find more information about the conditions here.

As a physician, can I order a test for my patient?
Yes. If you would like to order a test please contact Baby Genes for collection materials and requisition forms. If you have those, collect the specimen and return them to the Baby Genes Laboratory.
When can I order a test for my patient?
A Baby Genes newborn screening panel may be ordered at anytime, for anyone, at any age. However, to ensure that all samples are processed immediately following birth, we recommend that the order be placed a minimum of two weeks before the expected due date.
When can a sample be collected from the newborn child?
A sample may be collected anytime after birth. We recommend that a sample be taken immediately after birth to ensure results are obtained as soon as possible.
What information is reported in the test report?
The variant data collected is analyzed and we report all clinically significant variants that are classified as pathogenic or likely pathogenic as identified in the latest clinical and scientific publications and databases. Variants that are identified with unknown significance but fall within a protein-coding region and are predicted to effect a protein change are also reported. Please note, benign and likely benign variants, as well as Single Nucleotide Polymorphisms (SNPs) are not reported.
How is the Baby Genes Screening Test performed?
Baby Genes receives a dried blood spot (DBS) sample shortly after birth which is used to extract Genomic DNA (gDNA). We use the latest technology for Next Generation Sequencing (NGS) library preparation and sequence targeted, amplified regions of the DNA with an NGS instrument. We perform primary, secondary and tertiary analysis to develop a list of annotated variants that are relevant to the sample. Finally, Baby Genes develops a genetic testing report, in line with the American College of Medical Genetics (ACMG) recommendations for reporting, which is reviewed and approved by the Lab Director.