Genetic testing | - Can evaluate multiple RBC genes from the same sample
- Can be used in prenatal testing
- Not affected by recent transfusion or reticulocytosis
- Cost is decreasing
- Availability is increasing
- Sample preparation and shipping are less complicated
- Allows targeted testing of first-degree relatives
| - Biochemical testing may be required if a VUS is identified or if a pathogenic variant cannot be documented
- Unless patient is homozygous for a known variant, parent DNA samples are needed to ascertain if the detected variants are in cis (on the same allele) or trans (on separate alleles)
- Variants will be missed if relevant gene(s) are not included in the panel
|