Advantages and disadvantages of genetic and biochemical testing for RBC enzyme disorders

	Advantages	Disadvantages
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
Biochemical testing	Provides functional information Confirms enzyme deficiency regardless of the specific genetic cause	Availability of testing laboratories is decreasing Results may be affected by recent transfusion and/or reticulocytosis Cost may be greater, especially if tests are done sequentially Genetic testing may still be required to facilitate testing of relatives

A specialist in RBC metabolic enzyme disorders can provide guidance for specific patient evaluations. Genetic testing generally uses next generation DNA sequencing of germline DNA from nucleated cells in blood or saliva. Biochemical testing assays enzyme activity in patient RBCs.

RBC: red blood cell; VUS: variant of uncertain significance; DNA: deoxyribonucleic acid.

Graphic 139281 Version 2.0

خرید پکیج

Advantages and disadvantages of genetic and biochemical testing for RBC enzyme disorders