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Epilepsy Advanced Sequencing and CNV Evaluation
Test Code94553
CPT Codes
81443<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
ALDH7A1, ARFGEF2, ARHGEF9, ATP2A2, ATP6AP2, ATP6V0A2, ATRX, CASK, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CPT2, CTSD, CUL4B, DCX, DEPDC5, DNAJC5, EFHC1, EMX2, EPM2A, FGD1, FGFR3, FLNA, GABRA1, GABRB3, GABRD, GABRG2, GPC3, GPR56, GRIA3, GRIN2A, HSD17B10, KCNA1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA1279, KMT2D, LAMA2, LARGE1, LBR, LGI1, MBD5, MFSD8, NHLRC1, NIPBL, NRXN1, OFD1, OPHN1, PAFAH1B1, PAK3, PANK2, PAX6, PCDH19, PEX7, PHF6, PIGV, PLA2G6, PNKP, PPT1, PQBP1, PRICKLE1, PRICKLE2, RAB39B, RAB3GAP1, RAI1, RELN, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCARB2, SCN1B, SCN2A, SCN8A, SCN9A, SERPINI1, SETBP1, SLC25A22, SLC2A1, SLC4A10, SLC9A6, SMC1A, SMC3, SMS, SPTAN1, SRPX2, STXBP1, SYP, TBC1D24, TBX1, TCF4, TPP1, TREX1, TUBA1A, TUBA8, TUBB2B, UBE3A, VPS13A, ZEB2, ARX, ATP1A2, CACNA1A, COL4A1, NOTCH3, CASR, CDKL5, VPS13B, CNTNAP2, CSTB, FKTN, FKRP, FOXG1, MECP2, MEF2C, PLP1, POLG, POMT1, POMT2, POMGNT1, PRRT2, SCN1A, SYNGAP1, TSC1, TSC2, WDR62, GFAP, ASPM, MCPH1, ABAT, ADGRV1, ADSL, ALG13, ALG9, ALPL, AMT, ANKRD11, ASAH1, ATP13A2, ATP1A3, BCKDK, BRAT1, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, CENPJ, CHD2, CHRNA7, CPA6, CRH, CTSF, CYP27A1, DEAF1, DNM1, DOCK7, DPYD, DYNC1H1, DYRK1A, EEF1A2, FOLR1, GABRB2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2B, GRN, HCN1, HCN4, HNRNPU, HPRT1, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH2, KCNJ11, KIAA2022, L2HGDH, LIAS, LMNB2, MAGI2, NDE1, NDUFA1, NR2F1, PHGDH, PIGA, PIGN, PIGO, PLCB1, PNPO, PRIMA1, PURA, QARS, RBFOX1, ROGDI, SCN3A, SCN5A, SETD2, SHH, SIK1, SIX3, SLC13A5, SLC19A3, SLC25A19, SLC35A2, SLC6A1, SLC6A8, SNAP25, SPATA5, ST3GAL3, ST3GAL5, STIL, STX1B, SUCLA2, SYN1, SYNJ1, SZT2, TBL1XR1, TSEN54, WDR45, WWOX
Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tube(s)
Minimum Volume
6 mL
Other Acceptable Specimens
Pediatric (0-3 years): 2 mL whole blood (minimum: 1 mL)
Instructions
8 mL (6 mL minimum) whole blood collected in two EDTA (lavender-top) tubes
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
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
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing • Targeted Microarray • CNV Analysis using NGS
Setup Schedule
Set up: As needed; Report available: 28-35 days
Reference Range
See Laboratory Report
Clinical Significance
This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes that are associated with clinical disorders that can present with seizures.