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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
  • Request a sample kit
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CLCN4

Alias

CLC4; ClC-4; ClC-4A; MRX15; MRX49

Associated disorders

he CLCN4 gene is associated with X-linked early infantile epileptic encephalopathy (PMID: 23647072, 27550844). Additionally, the CLCN4 gene has preliminary evidence supporting a correlation with X-linked intellectual disability (PMID: 25644381).

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CLCN4

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Invitae tests that include this gene:

Cl-/H+ antiporters actively move protons and chloride ions across a membrane in opposite directions, creating electrical or pH gradients. The CLCN4 gene, also called CLC-4, encodes a Cl-/H+ antiporter that is important for endocytic trafficking and protein turnover (PMID: 12746443).

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
CLCN4 NM_001830.3