The Baby Genes Newborn Panel provides targeted sequencing of 99 genes, clinically linked to the ACMG recommended newborn metabolic disorders. Results are reported within 96 hours of sample receipt. 


Diagnostic ToolSupplemental NBSCarrier Screening

Diagnostic Tool

Reflex Testing For Abnormal Metabolic Newborn Screening Results

With affordable and fast genetic reflex testing, physicians can receive follow-up and confirmatory results within the first 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

Metabolic screening results for patients within the NICU can often be problematic or unreliable. Baby Genes performs genetic testing; therefore, the metabolic or health status of the child is irrelevant to result accuracy. Using DNA as the testing source, this test can offer diagnostic answers as well as provide assistance while narrowing a diagnostic search.

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 find out more information.

  Learn More About Follow-Up Testing

Supplemental Newborn Screening: Proactive Medicine

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 99 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.

  Learn More About Supplemental NBS

Carrier Screening: Helping 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.

  Learn More About Carrier Screening

Your questions answered

How is this test enabling more personalized medicine for my patient?

The Baby Genes newborn panel provides genetic sequencing results within 96 hours of sample receipt at our laboratory (as soon as 4-5 days after birth). The unique genetic makeup of each child can then be used to provide early diagnosis and early treatment of potentially fatal metabolic disorders. This level of personalized care provides the potential to either improve the quality of, or save a child’s life.

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.
  • The traditional test requires multiple follow-up actions in the event of an abnormal result which will ultimately result in a sequencing validation for diagnosis. Baby Genes test will short-circuit the front-end of the traditional process providing a priori knowledge of variants which can be quickly validated for diagnosis.

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

Please visit our “Test Panel” page for additional information about each condition.


Baby Genes accepts dried-blood spots as the primary specimen source.  Buccal swabs may also be submitted but only for non-breast feeding children and adults. Whole blood is also an acceptable specimen submission.  

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 billing and payment options are available?

Several billing options are available, but are dependent on the type of testing ordered. Please visit our Billing page to learn more. 

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 Newborn Test performed?

Baby Genes receives a dried blood spot (DBS) sample shortly after birth which is used to extract genomic DNA (gDNA). Using targeted-sequencing via Next-Gen technology, 99 genes are analyzed. and 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. The Baby Genes clinical consultant is also available as a resource for families and physicians.