MCT8-specific thyroid hormone cell transporter deficiency
(Allan-Herndon-Dudley syndrome) |
| Two blood samples are needed for testing. Dr. Refetoff’s Endocrinology Laboratory will perform thyroid hormone tests on the red-top tube including T4, T3, reverse T3 concentrations. If the panel is normal, we will issue a report without any genetic testing. If the results are consistent with MCT8-specific THCT deficiency, samples will be sequenced for MCT8 mutations. We offer full gene sequencing of all 6 coding exons and intron/exon boundaries. |
Tests |
CPT Codes |
TAT |
Cost |
| Normal thyroid testing only |
83891, 83912, 90001 |
2 weeks |
$350 |
Thyroid testing and MCT8 sequencing |
83891, 83898 x 4, 83904 x 6, 83912 |
4–6 weeks |
$1500 |
Information sheet for MCT8 testing
Clinical checklist (Please send with all samples for MCT8 testing)
Guide to Testing for Non-genetics Professionals for MCT8 testing
Guide to Testing for Families for MCT8 testing
MCT8 Organization
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