Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via the PANK2 Gene
Use
This test is intended for individuals who have a clinical or suspected diagnosis of pantothenate kinase-associated neurodegeneration (PKAN), or those who have abnormal brain iron accumulation detected on MRI. It is also for reproductive partners of individuals with a known pathogenic variant in the PANK2 gene. The test aims to identify genetic alterations in the PANK2 gene that are responsible for these conditions.
Special Instructions
The test is available on both Exome and Genome Platforms and can be ordered with additional options such as Exome-Wide CNV Analysis and STAT Testing. For standard pricing, users are advised to sign in. Results should be interpreted by qualified healthcare providers.
Limitations
This test is designed to detect genetic alterations specific to the PANK2 gene and may not cover other loci or genes. Negative results do not rule out the presence of other genetic causes of neurodegeneration or brain iron accumulation. The test has not been cleared or approved by the US Food and Drug Administration.
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