Allan-Herndon-Dudley Syndrome (MCT8) Sequencing

Disorder Allan-Herndon-Dudley syndrome
Gene Name MCT8
Clinical info Allan-Herndon-Dudley syndrome is an X-linked intellectual disability condition caused by mutations in the monocarboxylate transporter 8 (MCT8) gene. The features of this condition include moderate-severe intellectual disability, impaired speech, hypotonia, muscle weakness, and contractures, Mutations in this gene, located at Xq13.2, impair the transport of T3 into neurons as evidenced by elevated free T3 and decreased free T4 in the blood of affected patients.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81405

Known mutation: 81403

Deletion/Duplication Analysis: 81405
Cost $1200 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

$1000 for prenatal known mutation
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

Find out more