GTR Home > Tests > Baby Genes Targeted Panel

Overview

Test name

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Baby Genes Targeted Panel (Baby Genes Panel)

Purpose of the test

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

Condition

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89 conditions tested. Click Indication tab for more information.

Methodology

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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.

Genes

Clinical validity

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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.

Citations

Not provided

Clinical utility

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Other

Citations
  • 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

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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

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Baby Genes, Inc is unable to accept orders from New York and Maryland at this time.
Order URL Help: https://www.babygenes.net/information-for-physicians/

Test services

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  • 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.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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