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  • Turnaround time:
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  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
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SLC5A7

Alias

CHT; CHT1; HMN7A

Associated disorders

The SLC5A7 gene is associated with autosomal dominant distal hereditary motor neuropathy 7 (HMN7A) (MedGen UID: 322474) and autosomal recessive congenital myasthenic syndrome 20 (CMS20) (MedGen UID: 934661).

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SLC5A7

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Invitae tests that include this gene:

The percentage of clinical cases of distal hereditary motor neuronopathy type VIIa (HMN7A) caused by pathogenic variants in the SLC5A7 gene is unknown.

The SLC5A7 gene encodes the high-affinity choline transporter (ChT), also known as solute carrier family 5 member 7 protein. The SLC5A7 transporter functions to supply choline at the neuromuscular junction.

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
SLC5A7 NM_021815.2