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Complete HNPP Evaluation
Test Code900585
CPT Codes
81324, 81325
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
PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube, or
Pediatric volume: 2 mL
Pediatric volume: 2 mL
Minimum Volume
6 mL
Pediatric: 1 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.
Shipping conditions: Samples must be received at Chantilly Sunday through Thursday. Avoid freezing.
Note: Use of Entrapment Neuropathy Evaluation, is recommended when transthyretin amyloidosis is also suspected as a cause. 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.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Shipping conditions: Samples must be received at Chantilly Sunday through Thursday. Avoid freezing.
Note: Use of Entrapment Neuropathy Evaluation, is recommended when transthyretin amyloidosis is also suspected as a cause. 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
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing • Multiplex Ligation-dependent Probe Amplification (MLPA)
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 the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
See Laboratory Report
Clinical Significance
Detects duplications/deletions and sequence variations in the PMP22 gene.
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752
