Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis

Test Code

94599

CPT Codes
81406, 81479 <br><strong>** RESTRICTED USE ** This code is available to client 407, 54840, 55738, 56176, 51618, 51921, 57748, 55851, 53814, 51613, 52581,54329, 54435 and 55359, 58872 and Sutter All ONLY.</strong>

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

CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, KCTD7, MFSD8, PPT1, TPP1, ATP13A2, CTSF, GRN

Preferred Specimen

8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 Years): 2 mL

Minimum Volume

6 mL • Pediatric: 1 mL

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

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Received frozen

Methodology
Next Generation Sequencing • Copy Number Variation Analyses (NGS) • Targeted Microarray

FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: As needed; Report available 28-35 days

Clinical Significance

This diagnostic panel detects DNA sequence variants and copy number variants (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.