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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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MSX1

Alias

ECTD3; HOX7; HYD1; STHAG1

Associated disorders

The MSX1 gene is associated with tooth agenesis (MedGen UID: 43794) and orofacial clefting (MedGen UID: 373280). Additionally, the MSX1 gene has preliminary evidence supporting a correlation with autosomal dominant ectodermal dysplasia affecting the teeth and nails, also known as Witkop syndrome (PMID: 11369996).

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MSX1

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Invitae tests that include this gene:

The MSX1 gene encodes a transcription repressor that is thought to play a role in limb-pattern formation, craniofacial development including odontogenesis, and tumor growth inhibition (PMID: 9742121).

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
MSX1 NM_002448.3