Childhood-Onset Epilepsy Panel
New York
Approved
Genes
Conditions
- Creatine Deficiency Syndromes
- Epilepsy and Mental Retardation Limited to Females
- Epilepsy with Variable Learning and Behavioral Disorders
- Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
- Adenylosuccinate Lyase Deficiency
- Glucose Transporter Type I Deficiency Syndrome
- Alpers syndrome (Alpers-Huttenlocher syndrome)
- Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
- Angelman syndrome (AS)
- Mowat-Wilson Syndrome
- Neuronal Ceroid Lipofuscinoses (NCL)
- Arginase Deficiency
- Progressive Myoclonic Epilepsy
- Rett syndrome
- Atypical Rett Syndrome
Clinical Utility
- Molecular confirmation of a clinical diagnosis
- To assist with decisions about treatment and management of individuals with epilepsy
- Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
- Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
Lab Method
- Next-Gen Sequencing
- Deletion/Duplication Analysis
Test Code
542
CPT Codes*
81404x2, 81405x2, 81406x2, 81407x1
ABN Required
No
Turnaround Time**
4 weeks
Preferred Specimen
Alternative Specimen
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Test Documents
Billing
Targeted Variant Testing