| Test code: | 6010 |
| Type of disorder: | Epilepsy |
| Disease(s) tested for: | Epilepsy |
| Genes Included: | 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, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| 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. |
| Methodology: | Next Generation Sequencing, Copy Number Variation Analyses using Next Generation Sequencing, Targeted Microarray |
| Reference Range: | See Laboratory Report |
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.
| CPT: | 81302(1), 81304(1), 81403(2), 81404(4), 81405(6), 81406(6), 81407(1), 81479(1) |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | |
| Instructions: | 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 |
| Set-up/Analytic Time: | 28-35 days |
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