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  • Preferred specimen:
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  • Alternate specimens:
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SLC16A2

Alias

AHDS; DXS128; DXS128E; MCT 7; MCT 8; MCT7; MCT8; MRX22; XPCT

Associated disorders

The SLC16A2 gene is associated with X-linked MCT8-specific thyroid hormone cell transporter deficiency, also known as hereditary spastic paraplegia 22 (SPG22) and Allan-Herndon-Dudley syndrome (AHDS) (MedGen UID: 208645).

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SLC16A2

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Invitae tests that include this gene:

SLC16A2 is the sole known cause of SPG22 (Allan-Herndon-Dudley syndrome).

The SLC16A2 gene encodes the solute carrier family 16, member 2 protein, which is also referred to as MCT8. This protein functions as a thyroid hormone transporter and is expressed in the nervous system.

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
SLC16A2 NM_006517.4