CMT Advanced Evaluation - Axonal

Test Code

901156

CPT Codes
81403, 81404, 81479, 81406 (x3), 81405 (x4)

Includes

DNM2 DNA Sequencing Test
GARS DNA Sequencing Test
GDAP1 DNA Sequencing Test
GJB1 (CX32) Sequencing and Deletion Evaluation
HSPB1 DNA Sequencing Test
HSPB8 DNA Sequencing Test
LMNA (CMT) DNA Sequencing Test
MFN2 DNA Sequencing Test
MPZ DNA Sequencing Test
Neurofilament Light (NFL) DNA Sequencing Test
RAB7A DNA Sequencing Test
TRPV4 DNA Sequencing Test
YARS DNA Sequencing Test

Preferred Specimen

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

Minimum Volume

6 mL • Pediatric: 1 mL

Instructions

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

Note: 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
Multiplex Ligation-dependent Probe Amplification (MLPA) • Next Generation Sequencing

Setup Schedule

Set up: Varies; Report available: 21-28 days

Reference Range

No sequence variants detected

Clinical Significance

Detects deletions in Cx32 and sequence variations in CX32, MFN2, MPZ, RAB7, GARS, NFL, HSPB1, GDAP1, DNM2, YARS, LMNA, TRPV4, HSPB8.

Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752

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.