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Test Code 2086

Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene

SLC16A2

3 - 4 weeks (12 - 19 days STAT)

Indications
  • Individuals with relevant features who have a clinical or suspected diagnosis of Allan-Herndon-Dudley Syndrome
  • Individuals with family members who have a known pathogenic variant in SLC16A2
  • Reproductive partners of individuals with a known pathogenic variant in the SLC16A2 gene
Method
Sanger Sequencing
Specimen(s)

Blood, Buccal, Saliva, Tissue

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