ATCS; D4ST1; EDSMC1; HNK1ST
CHST14 is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (MedGen UID 356497).
Order this gene as a single gene test.
Invitae tests that include this gene:
CHST14-CDG (also known as musculocontractural type Ehlers-Danlos syndrome) is a rare disorder. The percentage of musculocontractural type Ehlers-Danlos syndrome cases that can be attributed to pathogenic variants in CHST14 is unknown.
The CHST14 gene encodes the dermatan 4-O-sulfotransferase-1 (D4ST1) enzyme. D4ST1 catalyzes the 4-O-sulfation of N-acetylgalactosamine, a process which is important in the synthesis of the proteoglycan, dermatan sulfate (PMID: 25703627).
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|