Epilepsy Adv Seq and CNV Eval-Encephalopathy

Test Code

94555

CPT Codes
81302, 81403, 81404 (x3), 81405 (x4), 81406 (x4), 81407, 81479<br /> Limited Access 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, WWO

Preferred Specimen

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

Minimum Volume

6 mL • 1 mL pediatric whole blood

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.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable

Methodology
Next Generation Sequencing • CNV Analys using NGS • Targeted Microarray

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 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.

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.