Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene
Use
This test is indicated for individuals showing clinical or suspected symptoms of Allan-Herndon-Dudley Syndrome, a rare genetic condition affecting the nervous system and development. It also applies to individuals with a familial link to a known pathogenic variant in the SLC16A2 gene and those reproductive partners carrying a pathogenic variant. Proper diagnosis and understanding of the condition can aid in tailored management and therapeutic approaches.
Special Instructions
Consider using the test requisition form to submit your order via fax if online ordering is not an option. STAT testing options are available but come with a surcharge unless delayed beyond specified timeframes. Engaging with family history and detailed clinical notes can improve variant interpretation outcomes.
Limitations
The test is performed using Sanger Sequencing, which may not detect large deletions or duplications. The use of only high-confidence variant calls is emphasized, and performance may vary based on the variant's zygosity or underlying secondary structure complexities. Results should be interpreted in context with clinical presentation and family history.
New York Approved
Methodology
Sanger
Biomarkers
Result Turnaround Time
12-19 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided