• Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit




Associated disorders

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

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 MAP2K2 is unknown.

The MAP2K2 gene encodes a mitogen-activated protein (MAP) kinase that is in RAS/MAPK signalling pathway. MAP kinases respond to extracellular and intracellular signals that are transmited to the nucleus. These signals regulate cell growth, maturation, migration and cell death. MAP2K2 is very similar to MAP2K1 and their functions are crucial for normal development before birth and for survival after birth.

Assay and technical information

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
MAP2K2 NM_030662.3