AGS2; HJCYS; hN2
The NOTCH2 gene is associated with autosomal dominant Hajdu-Cheney syndrome (MedGen UID: 182961) and Alagille syndrome 2 (ALGS2) (MedGen UID: 341844).
Order this gene as a single gene test.
NOTCH2: Analysis is not offered for exons 1-4.
Invitae tests that include this gene:
The NOTCH2 gene encodes a transmembrane protein, which is crucial for normal development and function of multiple tissue types in the body. Notch2 signaling occurs via cell-cell binding, and results in gene expression regulation (PMID: 21378989). During the embryonic period, Notch2 is particularly important for heart, liver, kidney, tooth, and bone cell growth and development (PMID: 12244553).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|
*NOTCH2: Analysis is not offered for exons 1-4.