Epilepsy Expanded (Trio)

Test details
Medical Speciality
  • Neurological Disorders
Disorders
  • Adenylosuccinate Lyase Deficiency
  • Alpers syndrome (Alpers-Huttenlocher syndrome)
  • Angelman syndrome (AS)
  • Angelman-like syndrome, X-linked syndromic mental retardation (Christianson type)
  • Atypical Rett Syndrome
  • Benign Familial Neonatal Seizures (BFNS)
  • Benign Familial Neonatal-Infantile Seizures (BFNIS)
  • Creatine Deficiency Syndromes
  • Early-Onset Epileptic Encephalopathy and/or Infantile Spasms
  • Epilepsy and Mental Retardation Limited to Females
  • Epilepsy with Variable Learning and Behavioral Disorders
  • Generalized Epilepsy with Febrile Seizures Plus (GEFS+)
  • Glucose Transporter Type I Deficiency Syndrome
  • Lafora Disease
  • Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ)
  • Mowat-Wilson Syndrome
  • Neuronal Ceroid Lipofuscinoses (NCL)
  • Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant
  • Ohtahara Syndrome
  • Partial Epilepsy with Auditory Features, Autosomal Dominant
  • Progressive Myoclonic Epilepsy
  • Pyridoxine Dependent Seizures
  • Rett syndrome
  • Unverricht-Lundborg Disease (Baltic Myoclonus)
  • West 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 variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
Ordering
Test Code GD921
Turn Around Time 6 weeks
Collection Instructions LAV: Fill lavender-top (EDTA) tube completely, invert 8-10 times. DO NOT SHAKE TUBE!
MORE TEST DETAILS
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