Niemann-Pick Disease Type C Panel
Use
The Niemann-Pick Disease Type C Panel is intended for individuals who have features indicative of Niemann-Pick Disease Type C or those who have a clinical or suspected diagnosis of this disorder. It is also suitable for infants who present with unexplained cholestatic jaundice. The panel seeks to identify genetic mutations that could confirm a diagnosis, assist in assessing the disease progression, and guide therapeutic decisions.
Special Instructions
This test is performed using Next-Generation Sequencing (NGS) with CNV analysis on the PGselect Platform. STAT testing is available, which delivers results in a shorter timeframe. Ensure that specimens are collected and submitted according to guidelines to avoid delays.
Limitations
The test may not detect all genetic mutations associated with Niemann-Pick Disease Type C. It is limited by the sensitivity and specificity of the NGS technology and the CNV analysis employed. In addition, not all sequence variants will be of clear clinical significance, and further family studies or additional testing may be required.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided