Iron-Refractory Iron Deficiency Anemia (IRIDA) via the TMPRSS6 Gene
Use
This test is designed for individuals displaying features indicative of Iron-Refractory Iron Deficiency Anemia (IRIDA). It is particularly suited for patients with hypochromic, microcytic anemia that does not respond to oral iron treatment but shows partial response to parenteral iron therapies. It's also relevant for the reproductive partners of patients known to have a pathogenic variant in the TMPRSS6 gene.
Special Instructions
The test uses NGS with CNV detection and can be performed using either the Exome or Genome platform depending on the sample type.
Limitations
The test may not detect all pathogenic variants in the TMPRSS6 gene due to technical limitations of next-generation sequencing and CNV analysis. Rare variants may not be covered or detected depending on the platform used and the quality of the sample.
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