Frequently asked questions
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?
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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.