Congenital Methemoglobinemia via the CYB5R3 Gene
Use
This test is intended for individuals who have a clinical or suspected diagnosis of congenital methemoglobinemia. It is also relevant for reproductive partners of individuals with a known pathogenic variant in the CYB5R3 gene. The test helps in identifying pathogenic variants that can lead to early and accurate diagnosis, thereby facilitating timely medical intervention.
Special Instructions
The test is conducted using an NGS platform with CNV analysis, either on an exome or genome scale, depending on the specimen type provided. Exome-wide CNV analysis is available as an add-on for an additional charge. STAT testing is available, which expedites the process but incurs additional costs.
Limitations
The test may not detect all genetic variations associated with congenital methemoglobinemia, and certain regions may not be adequately covered. The presence of mosaicism may not be detected, and some CNVs may be outside the detectable range of the platforms used. The test does not differentiate between variants of uncertain significance and pathogenic variants without clinical correlation.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided