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Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms
Test Code94562
CPT Codes
⁠⁠⁠⁠⁠⁠⁠<br>** RESTRICTED USE ** This code is available to client 407, 54840, 55738, 56176, 51618, 51921, 57748, 55851, 53814, and 54329 ONLY.
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
ARX, CDKL5, FOXG1, GABRB3, GRIN2A, MEF2C, SCN2A, SLC25A22, SPTAN1, STXBP1, ADSL, CACNA2D1, NR2F1 , SLC35A2, ST3GAL3, TBL1XR1
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 (NGS) • 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 associated with Infantile spasms (IS) that are characterized by clusters of epileptic spasms with ictal electrodecrement, usually with onset before the age of 1 year. There have been many variations in terminology describing IS over the years, with the eponym "West syndrome" generally referring to the triad of spasms, hypsarrhythmia, and intellectual disability or regression. Some genes in this panel are also associated with a broader group of developmental disorders that overlap with intractable epilepsy and epileptic encephalopathy.
