Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability

Test Code
6019

Test Details


Test code: 6019
Type of disorder: Epilepsy
Disease(s) tested for: Epilepsy
Genes Included: 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
Informed Consent Required: This test requires physician attestation that patient consent has been received

Technical Information


Clinical Significance: This diagnostic panel detects DNA sequence variants and copy number variations (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.
Methodology: Next Generation Sequencing, Copy Number Variation Analyses using Next Generation Sequencing, Targeted Microarray
Reference Range: See Laboratory Report

CPT Coding


The CPT codes provided 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 payer being billed.

CPT: 81302, 81304, 81403, 81404 (3), 81405 (6), 81406 (2), 81407, 81479

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions: 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.

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 28-35 days

Additional Resources

Letters of Medical Necessity

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