Baby Genes, Inc. was formed in 2013 to fulfill an unmet need in the Newborn Screening (NBS) arena. We are a Clinical Laboratory Improvement Act (CLIA) registered laboratory using Next Generation Sequencing (NGS) assays focused on NBS.
The Baby Genes mission is to save lives by providing parents, health care providers and public health departments a more standardized approach to NBS; one that screens for more conditions, is more responsive to current and future needs and provides more actionable information.
Our vision is a standard approach to screening newborns that does not allow a single child to suffer the ill-effects of genetic condition that is both identifiable and treatable from the very beginning. In addition, we want to see a world where the early detection of genetic conditions substantially improves an affected child’s quality of life.
Using next-generation sequencing, the BG Newborn Screening Panel includes full exon sequencing of the associated genes (see below), +/- approximately 25bp into the flanking intronic regions to identify potential variations. This is a clinical genetic test, and results are analyzed and interpreted by the Baby Genes laboratory and medical staff. The clinical report delivers information on any pathogenic or likely pathogenic variants and their clinical significance. In addition, the report will identify any non-synonymous variants of unknown significance.
Baby Genes will provide Dried Blood Spot (DBS) collection kits with each order. Each test requires five blood spots, information card (included with the kit) and signed informed consent.
Each kit comes with return packaging and a pre-paid shipping label.
Newborn Screening Panel Methodology
Genomic DNA is extracted following standard protocols. DNA is amplified to obtain coding exons and their flanking regions (approximately 25 bp on either side). Sequencing is done via next generation sequencing method, and all fragments are sequenced by forward and reverse internal primers when possible to determine the noted regions. Mutations are scored relative to the reference sequences deposited in the publicly available database NCBI and following the recommendations of the human genetic variation nomenclature scheme. Accordingly, exon 1 of the tested gene is defined as the exon in which the first ATG appears. Chromosomal positions are indicated according to the hg19 reference assembly. Clinical reports are reviewed and approved by the Clinical Laboratory Director and the Baby Genes Physician of Record (if necessary).
We offer Next-Generation sequencing using the Illumina MiSeq. We have both an MiSeq (RUO) and MiSeq-DX (Diagnostic) in house. Services include final pool quantification, all sequencing supplies, next-gen sequencing, and delivery of raw files from the instrument. Sample quantification and pooling is available for additional cost. Data analysis may be available on request. Kit types available : V2-50 cycles, V2-300 cycles, V2-500 cycles (pricing varies per kit type). Average turn around time of 1-2 weeks. Please contact us for more information: [email protected] or 844-213-2329.
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