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Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability
Test Code94558
CPT Codes
81302, 81404, 81405 (x5), 81406 (x2), 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, ATP6AP2, ATRX, CASK, CDKL5, CUL4B, DCX, FGD1, GPC3, GRIA3, HSD17B10, KDM5C, MECP2, OFD1, OPHN1, PAK3, PCDH19, PHF6, PLP1, PQBP1, RAB39B, SLC9A6, SMC1A, SMS, SRPX2, SYP, ABAT, ADSL, ALG13, ALG9, BCKDK, CACNA2D1, CHRNA7 , DEAF1, DPYD, DYRK1A, EEF1A2, FOLR1, GABRB2 , GAMT, GATM, GFAP, GRIN2B, HNRNPU, IQSEC2, KIAA2022, PURA, RBFOX1, SETD2, SLC35A2, SLC6A8, SNAP25, SPATA5, SYN1, WDR45
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes, or
Pediatric 0-3 years: 2 mL whole blood
Pediatric 0-3 years: 2 mL whole blood
Minimum Volume
6 mL • 1 mL pediatric
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.
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, 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 variants (CNV) in genes associated with seizures and intellectual disability (ID). Seizures accompany intellectual disability in many syndromes caused by single gene mutations. The clinical and electroencephalographic spectrum of seizure types associated with ID is quite broad, ranging from febrile to recalcitrant seizures. In some of these disorders, seizures are the only manifestation accompanying intellectual impairment. In other cases, seizures are one of several neurologic and/or other systemic manifestations.
