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Test Code MISC6ATHENA5507 Periodic Paralysis Advanced Sequencing Evaluation

Department

SEND OUTS

Reference Lab Test Number

5507

Collection Requirements

Informed Consent Required: This test requires physician attestation that patient consent has been received.

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

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.

Primary Collection Container

2 – Lavender 4 mL (K3EDTA)

Alternate Collection Container

Pink (K3EDTA)

Transport

Whole blood ambient

Preferred Transport Temperature

Ambient

Stability

Ambient: 10 days

Refrigerated: 10 days

Frozen: Unacceptable

Minimum Testing Volume

Adult: 6 mL

Pediatric: 1 mL

Reference Range

No mutations detected.

Methodology

Next Generation Sequencing

Performed

Varies

Reported

22-29 days

CPT Codes

-81403, 81406, 81479

Unacceptable Conditions

Frozen specimens.

Additional Information

Detects mutations in 3 genes that cause severe episodes of muscle weakness.

Typical Presentation: Severe episodes of muscle weakness, often triggered by abnormally high or low potassium levels (hyperkalemic and hypokalemic periodic paralysis), or high thyroid levels (thyrotoxic).