Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis

Test Code

Test Details

Test code: 6022
Type of disorder: Epilepsy
Disease(s) tested for: Epilepsy
Genes Included: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, KCTD7, MFSD8, PPT1, TPP1, ATP13A2, CTSF, GRN
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 neuronal ceroid lipofuscinoses (NCLs), a group of progressive neurodegenerative disorders.  Most types of NCL show autosomal recessive inheritance with mainly early childhood onset. The main clinical symptoms involve mental and motor deterioration, epilepsy, visual loss, ataxia, and a reduced life span. The age of onset and disease progression can be variable.  Genetic testing and identification of the causative variants are often required to unequivocally place a patient within the correct NCL subtype.
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: 81443(1)

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

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