CFC3; MAPKK1; MEK1; MKK1; PRKMK1
The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).
Order this gene as a single gene test.
Invitae tests that include this gene:
An estimated 25% of CFC syndrome is caused by pathogenic variants identified in MAP2K1 and MAP2K2. The percentage of Noonan syndrome attributed to pathogenic variants identified in MAP2K1 is unknown.
The MAP2K1 gene encodes a mitogen-activated protein (MAP) kinase that is in the RAS/MAPK signalling pathway. MAP kinases respond to extracellular and intracellular signals that are transmitted to the nucleus. These signals regulate cell growth, maturation, migration, cell death. MAP2K1 gene is very similar to MAP2K2 and their functions are crucial for normal development before birth and survival after birth.
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|