50DAG; ADL; DAG2; DMDA2; LGMD2D; SCARMD1; Sarcoglycan, alpha; adhalin
The SGCA gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) (MedGen UID: 334108).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in the SGCA gene have been estimated to cause as much as 38% of clinical cases of severe autosomal recessive LGMD and 4% of LGMD overall.
The SGCA gene encodes the alpha-sarcoglycan protein, a subunit of the tetrameric sarcoglycan complex. The sarcoglycan complex is a component of the dystrophin-glycoprotein complex, which functions as a structural link between the cytoskeleton of muscle cells and the extracellular matrix.
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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
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|