PMP22-Related Neuropathies via the PMP22 Gene
Use
This test is intended for individuals who have clinical or suspected diagnoses of PMP22-related neuropathies or hereditary neuropathy with liability to pressure palsies. It is also suitable for individuals displaying symptoms such as foot deformities, loss of balance, foot drop, or frequent tripping and falls, which are indicative of these neuropathies.
Special Instructions
This test is conducted using NGS with CNV analysis on either the Exome or Genome Platform. An Exome platform requires blood, DNA, buccal, saliva, or tissue specimens, while the Genome platform requires blood or DNA specimens. Ensure correct specimen type and volume based on chosen platform.
Limitations
The test may not cover all mutations within the PMP22 gene and related neuropathies. Variants of uncertain significance could be identified that require further investigation. Accuracy depends on the quality of provided clinical information and specimen conditions. Limitations intrinsic to NGS, such as difficulty detecting certain types of variants like small insertions/deletions, may affect results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided