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  • 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
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ALG14

Alias

CMS15

Associated disorders

The ALG14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 15 (CMS15) (MedGen UID: 830988).

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ALG14

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Invitae tests that include this gene:

The ALG14 gene encodes a UDP-GlcNAc transferase enzyme. This enzyme plays an important role in protein glycosylation in the endoplasmic reticulum. Disruption of this enzyme has been suggested to reduce the expression acetylcholine receptors in muscle cells and may play a pathogenic role in congenital myasthenia syndrome.

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
ALG14 NM_144988.3