Epilepsy Adv Seq and CNV Eval-Gen,Abs,Foc,Feb,Myo

94554

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.

ALDH7A1, CACNA1A, CASR, CHRNA2, CHRNA4, CHRNB2, CSTB, DEPDC5, EFHC1, EPM2A, GABRA1, GABRB3, GABRD, GABRG2, GRIN2A, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MBD5, NHLRC1, PCDH19, PRICKLE1, PRICKLE2, PRRT2, SCARB2, SCN1A, SCN1B, SCN2A, SCN9A, SLC2A1, SLC4A10, TBC1D24, ABAT, ADSL, ALG13, ALG9, AMT, ASAH1, ASPM, ATP1A3 , BCKDK, BRAT1, CACNA1H, CACNB4, CHD2, CHRNA7 , CPA6, CRH, CYP27A1, DYNC1H1, FOLR1, GABRB2 , GAMT, GATM, GLDC, GOSR2, GRIN2B, HCN1, HCN4, KCNC1, KCNH2, L2HGDH, LIAS, LMNB2, NDUFA1, PHGDH, PIGO , PNPO, PRIMA1, SCN3A, SCN5A, SLC19A3, SLC25A19, SLC35A2, SLC6A1, SLC6A8, ST3GAL5, STX1B, SUCLA2, SYNJ1, ALPL

8 mL whole blood collected in each of two EDTA (lavender-top) tubes, or
Pediatric 0-3 years: 2 mL whole blood

6 mL • 1 mL pediatric whole 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.

Room temperature

Set up: As needed; Report available: 28-35 days

See Laboratory Report

This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes associated with genetic forms of epilepsy including generalized, absence, partial (focal), febrile, and myoclonic seizures.