Using next-generation sequencing, the BG Newborn Panel includes full exon sequencing of the associated genes +/- 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.
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.