GTR Home > Tests > Baby Genes Targeted Panel


Test name


Baby Genes Targeted Panel (Baby Genes Panel)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Predictive, Risk Assessment, Screening



89 conditions tested. Click Indication tab for more information.


Molecular Genetics
TTargeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq/NextSeq

Summary of what is tested

90 genes and variants. Click Methodology tab for more information.


Clinical validity


Quality control metrics are evaluated for each individual sample. A minimum average depth of >35x must be achieved with >85% of targeted bases covered at a depth of >6x. Clinical data collected as demonstrated, on average, 99.9% coverage of targeted positions >6x with an average depth of 306.5x. A minimum of 85% of positions with known clinically significant mutation must also be covered at a depth of >6x. Clinical data collected has demonstrated, on average, 99.9% of targeted clinically significant positions covered at a depth >6x.


Not provided

Clinical utility



  • Baby Genes provides a molecular test to augment traditional metabolic newborn screening. Supplemental newborn screening can lead to early detection and a rapid diagnosis.

Testing strategy


Clinically significant screening results are included in the clinical report and released to the ordering physician for disposition. The test is recommended as a pre-symptomatic newborn screening, reflex diagnostic testing (following phenotype presentation or abnormal biochemical screen), or adult carrier screen (family planning).

How to order


Baby Genes, Inc is unable to accept orders from New York and Maryland at this time.
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Supplemental Newborn Screening
  • Reflex Diagnostic Testing
  • Carrier Screening (Family Planning)
  • Custom mutation-specific/Carrier testing

Suggested reading

  • Camp et al., 2014
    Phenylketonuria Scientific Review Conference: State of the science and future research needs.

Practice guidelines

  • ACMG, 2014
    Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
  • ACMG, 2014
    Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
  • USPSTF, 2008
    Screening for Phenylketonuria (PKU): US Preventive Services Task Force Reaffirmation Recommendation: US Preventive Services Task Force
  • EuroGenetest, 2011
    Clinical utility gene card for: Phenylketonuria.

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