This test is especially indicated in patients in whom the combination of symptoms does not allow medical specialists to guide a possible diagnosis. In such cases, ordering a specific genetic test becomes a complex and sequential diagnostic strategy that greatly increases the cost of the study. In addition, a late diagnosis can have a significant impact on the patient's quality of life.
Therefore this test is especially indicated in patients with*:
- very heterogeneous phenotype
- Coexistence of two or more unrelated phenotypes in the same patient
- Absence of a key phenotypic trait at the time of testing
- Indistinguishable phenotype, with no known cause
*Xue Y et al. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med. 2015 Jun;17(6):444-51.
Among other pathologies, this diagnostic approach has proven to be especially useful in the study of:
- Intellectual disability/developmental delay
- Autism
- cardiomyopathies
- Epilepsy
- Muscular dystrophy
- Ataxia and neuropathies
- Bone and connective tissue disorders
- Undiagnosed metabolic disorders
- low stature
- complex dysmorphic disorders
- immunodeficiencies
The complete sequence obtained in the study of the whole exome is stored, which allows additional analyzes to be carried out sequentially on the patient, increasing the diagnostic rate and reducing the cost and time to obtain results.
