GTR Home > Tests > Early Infantile Epileptic Encephalopathy Panel

Overview

Test name

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Early Infantile Epileptic Encephalopathy Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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42 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Microarray
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

45 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • 1. Deprez L, et al. “Genetics of epilepsy syndromes starting in the first year of life”. (2009) Neurology 72: 273-281. 2. Mastrangelo M, et al. “Genes of early –onset epileptic encephalopathies: from genotype to phenotype.” (2012) Pediatr. Neurol. 46:24-31. 3. Stromme et.al. “Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy”. (2002) Nature Genet. 30:441-445. 4. Weaving LS, et. al,. “Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation”. (2004) Am J Hum Genet 75: 1079-93. 5. Archer, et al. “CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients”. (2006) J Med Genet, 43:729-734. 6. Elia M, et al. “CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy”. (2008) Neurology 71(13): 997-9. 7. Molinari, F et al., Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic

How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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