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Lab Dept:
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Anatomic Pathology
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Test Name:
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COMPLETE HNPP (PMP22) EVALUATION
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General Information
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Lab Order Codes:
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HNPP
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Synonyms:
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Herediatry Neuropathy with liability to Pressure Palsies; Charcot-Marie-Tooth disease, Type 1A (CMT1A), HNPP; PMP22
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CPT Codes:
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81324 – PMP22 gene analysis, deletion/duplication
81325 – PMP22 gene analysis, full sequence
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Test Includes:
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PMP22 DNA sequencing and PMP22 dup/del DNA
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Logistics
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Test Indications:
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Used to detect duplication/deletion and sequence variations in the PMP22 gene in Charcot-Marie-Tooth disease type 1, type 1A (CMT1A) and HNPP (Hereditary Neuropathy with liability to Pressure Palsies)
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Lab Testing Sections:
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Anatomic Pathology – Sendouts
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Referred to:
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Athena (Test #243)
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Monday – Wednesday by 15:00 only
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Turnaround Time:
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Results are reported in 14-21 days
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Special Instructions:
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Collect specimen MONDAY – WEDNESDAY by 15:00 only. Specimen stability is 72 hrs.
Note if patient is symptomatic or asymptomatic. If the patient is asymptomatic, complete and submit “Medical Practitioner's Authorization form” with the specimen to the laboratory.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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20 mL (Minimum: 8 mL) of blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture
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Special Processing:
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Lab Staff: Do Not Centrifuge. Specimen should remain in the original collection container. Store and ship overnight at room temperature Monday -Wednesday only. Forward promptly. Specimen stability: 72 hrs
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Patient Preparation:
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None
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Sample Rejection:
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Mislabeled or unlabeled specimens.
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Interpretive
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Reference Range:
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Interpretive report
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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Pulse Field Gel Electrophoresis and DNA Sequencing
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References:
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Athena Diagnostics June 2010
1-800-394-4493 Fax: 508-753-5601
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Updates:
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1/26/2012: CPT update
2/4/2013: CPT update
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