MECP2 Sequencing and CNV Evaluation

Test Code

94916

CPT Codes
81302, 81304

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 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.
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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 using Next Generation Sequencing • Targeted Microarray or Multiplex Ligation-dependent Probe Amplification with Copy Number Variation confirmation

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

Detects sequence variations and copy number variations (CNV) in the MECP2 gene. Patients have normal psychomotor development during the first 6-18 months followed by a period of rapid regression and acquired microcephaly. A hallmark of the disease is the loss of purposeful hand use and its replacement with repetitive stereotyped hand movements.

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.