This is a complete genetic analysis that looks for mutations-variants in the DNA sequence in over 24,000 genes.
Strongly recommended for couples under a consanguineous marriage planning to conceive naturally or through an assisted reproduction treatment. WES identifies the risk of having a genetically affected baby. Used for screening Healthy Couples, analyses more than 2,600 Genes to report autosomal recessive and X-linked variants (variants-genes-phenotypes clinically validated by HGMD, OMIM, DECIPHER and ClinVar).
This test identifies the risk of transmitting recessive disorders to future generations.
Although carriers are healthy people, if both parents have same variant in the same gene the probability of having an affected child is 25%. (PGT-M is recommended to avoid this probability). Results in 25 Days "Individuals" and "Compatibility" results for couples to identify common pathogenic variants with a high risk to be inherited by future generations (as per ACMG and International guidelines).
Used to diagnose Affected Patients; Especially recommended in complex cases of new-borns or individuals, where clinical symptoms prevail for genetic mutations which need to be identified along with the family members.
Specially indicated for families with a history of affected members (new-borns or individuals) with undiagnosed genetic disorder. This test sequences and analyses 180,000 exons, approx. 24,000 human protein-coding genes along with phenotype and family history driven interpretation.
Clear results with identified variants following international best-practice guidelines of ACMG/CMSS (American College of Medical Genetics/Council of Medical Specialty Societies).