- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Intellectual disability and seizure disorder of variable severity. May also include speech/language delays, movement disorder, and behavioral disorders such as autism, hyperactivity, and self-injury.
Incidence: Unknown. More than 100 cases have been described.
Cause: Pathogenic SLC6A8 gene mutations.
Clinical Sensitivity: Approximately 99 percent.
Methodology: Bidirectional sequencing of the entire coding region and intron/exon boundaries of the SLC6A8 gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than SLC6A8 were not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2008616||SLC6A8 Seq Specimen|
|2008617||SLC6A8 Seq Interpretation|