Genetic Counseling

Personalized pre- and post-test counseling support

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Non-invasive prenatal screening

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Whole exome sequencing solution

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Comprehensive carrier screening

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Hereditary cancer panel testing

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Targeted Mutation Screening

Targeted mutation screening is a useful diagnostic test utilized to detect the mutated gene or genes causing a specific, or previously established genetic disease in the family.

When is Targeted Mutation Screening recommended?

The test can be performed for a broad range of clinical indications:

  • To confirm a suspected diagnosis of a specific genetic condition present in the family. Conditions include inherited single-gene disorders such as Sickle cell, cystic fibrosis, hereditary cancers, Fragile-X, congenital hearing loss, and others
  • To detect the carrier status of unaffected individuals for specific mutations. Example: Carrier Screening
  • To assess the probability of developing a disease. Example: BRCA1, BRCA2

If a person suffers from a genetic condition and the above statements do not apply, then Whole Exome Sequencing may be an alternative diagnostic option.

How is the test performed?

Targeted mutation screening offers the potential for more informed therapeutic strategies, prevention of disease onset, and the opportunity to minimize the transmission of genetic conditions to future generations through the use of Assisted Reproductive Technology (ART) with PGT-M.

  • Sanger sequencing
  • MLPA
  • Fragment Analysis
  • Repeat Expansion testing