ACID1; ARC92; BVSYS; CMT2B2; P78; PTOV2; TCBAP0758
The MED25 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID: 381352).
Order this gene as a single gene test.
Invitae tests that include this gene:
MED25 is a rare cause of CMT2, and the percentage of cases attributed to pathogenic variants identified in MED25 is unknown.
The MED25 gene encodes the mediator complex subunit 25 protein. The mediator complex regulates transcription by acting as a bridge between RNA polymerase II and general transcription factors. The MED25 subunit may play a role in the regulation of PMP22, a gene that is a common cause of CMT.
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|