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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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FISH Analysis - Hereditary Neuropathy with Liability to Pressure Palsies
HNPP | Hereditary Pressure Sensitive Neuropathy | Tomaculous Neuropathy
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 8467
Special Notes: For initial screening we recommend CMA - HR (#8655).

The majority (>98%) of CMT1A cases are caused by a DNA duplication of a 1.5 Mb region on 17p12 containing the PMP22 gene (test #8462). The reciprocal product of the CMT1A duplication is a 1.5 Mb deletion that causes hereditary neuropathy with liability to pressure palsies (HNPP). Approximately 80% of patients with HNPP will have a deletion detectable by FISH.
Technical Information
Methodology: Fluorescent in Situ Hybridization (FISH) Analysis
Gene Name: PMP22
Protein Name: Peripheral myelin protein 22
Sample & Shipping Information
Test Requisition: Cytogenetics
Specimen Type: Blood
Requirements: Draw blood in a Sodium Heparin (green-top) tube(s) and send 3-5 cc (Adults/Children) or 1-2 cc (Infant< 2 years).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Specimen should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 88230x1, 88273x1, 88271x1, 88291x1


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