Epilepsy Adv Seq and CNV Evaluation - Infantile Spasms

94562

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.

ARX, CDKL5, FOXG1, GABRB3, GRIN2A, MEF2C, SCN2A, SLC25A22, SPTAN1, STXBP1, ADSL, CACNA2D1, NR2F1 , SLC35A2, ST3GAL3, TBL1XR1

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

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

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

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 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.