Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis

Test Code

94559

CPT Codes
81406, 81479<br /> Restricted Client 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.

Preferred Specimen

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

Minimum Volume

6 mL whole blood • 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.

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 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.

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.