Test Name & Code:
• Test Name: HNPP
• Test Code: 2164
• Test Code: 2164
Related Diseases & Genes:
• “NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP” (OMIM #: 162500) || Gene: PMP22 (OMIM #: 601097)
Synonyms:
• PMP22 Deletion
• 17p11.2 Deletion
• 17p11.2 Deletion
Test Details:
• Methodology: PCR-RFLP
• Performed: Everyday
• Reported: 1 week
• Performed: Everyday
• Reported: 1 week
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
