• 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



C4orf25; CMS10; CMS1B

Associated disorders

The DOK7 gene is associated with autosomal recessive congenital myasthenic syndrome 10 (CMS10) (MedGen UID: 376880) and fetal akinesia deformation sequence (FADS) (MedGen UID: 220903).

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DOK7: Analysis includes the intronic variant NM_001301071.1:c.54+14_+28delGGGGGGGGGGGGCGC.

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Invitae tests that include this gene:

Pathogenic variants in DOK7 are estimated to cause between 10% to 15% of clinical cases of congenital myasthenic syndrome.

DOK7 encodes the Downstream of tyrosine kinase-7 protein. DOK7 is expressed at the postsynaptic region of skeletal and heart muscle. DOK7 is involved with phosphorylation of MUSK, an essential step in neuromuscular synapse formation.

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
DOK7* NM_173660.4

*DOK7: Analysis includes the intronic variant NM_001301071.1:c.54+14_+28delGGGGGGGGGGGGCGC.