The SLC6A3 gene is associated with autosomal recessive infantile parkinsonism-dystonia (PKDYS) (MedGen UID: 413468).
Order this gene as a single gene test.
Invitae tests that include this gene:
Loss of function of SLC6A3 causes dopamine transporter deficiency syndrome, a disorder with infantile onset of parkinsonism-dystonia. Test sensitivity should be near 100% in patients with classic clinical features and elevated ratios of homovanillic acid:5-hydroxyindoleacetic acid in cerebrospinal fluid.
SLC6A3 encodes a dopamine transporter involved with the reuptake of dopamine from the synapse.
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|