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Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy
Test Code94555
CPT Codes
81302, 81403, 81404 (x3), 81405 (x4), 81406 (x4), 81407, 81479<br>Restricted Client Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Includes
ARHGEF9, ARX, CDKL5, CNTNAP2, FOXG1, GABRG2, GRIN2A, KCNT1, MECP2, NRXN1, PCDH19, PNKP, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, ZEB2, ADSL, ALG13, ALG9, AMT, BRAT1, CACNA2D1, CACNA2D2, CHD2, DNM1, DOCK7, EEF1A2, GLDC, GNAO1, GRIN1, GRIN2B, HCN1, HNRNPU, KCNA2, KCNB1 , KCNJ11, LIAS, PIGA, PIGN, PLCB1, PNPO, PURA, QARS, SIK1, SLC13A5, SLC19A3, SLC25A19, SLC35A2, ST3GAL5, SZT2, WDR45, WWOX
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL
Pediatric (0-3 Years): 2 mL
Minimum Volume
6 mL • Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen
Methodology
Next Generation Sequencing • Copy Number Variation Analyses using Next Generation Sequencing • Targeted Microarray
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available 28-35 days
Clinical Significance
This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes that are associated with genetic forms of epileptic encephalopathy (EE). EEs are electroclinical syndromes associated with a high probability of encephalopathic features that present or worsen after the onset of epilepsy. As a group EEs tend to be pharmacoresistant, regressive, severe in infancy and early childhood, and associated with profound cognitive impairment.