# Introduction {: .ui .center .aligned .header .header_pink}

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**This is not a certified clinical report. This report is for information purposes only. It is not to be
used for medical diagnostic or treatment purposes.**

Genetic carrier screening test helps couples determine the risk of passing down genetic conditions to
their child, either prior to conception (preferred) or in early pregnancy. Most people do not know they are
a carrier for an inherited genetic disease until they have a child with the condition. Everyone has a
possibility of being a carrier for a genetic condition regardless of ethnicity, family background, or family
history. It is common to be a carrier for at least one recessive genetic disease. Carrier screening is
becoming an essential part of pregnancy planning, and allows you to make informed decisions about
your reproductive options and prenatal care.

This carrier report evaluates 288 genes for genetic changes (variants) that are associated with an
increased risk of carrying variants for genetic disorders. Knowledge of carrier status for one of these
disorders may provide information that can be used to assist with family planning and preparation.

Pathogenic and likely pathogenic variants are reported; likely benign and benign variants were not
reported. The pathogenicity potential of the identified variants were assessed by considering the
predicted consequence, the biochemical properties of the codon change and the degree of evolutionary
conservation as well as a number of reference population databases and mutation databases such as,
but not limited, to the 1000 Genomes Project, gnomAD, ClinVar, ExAC and HGMD. Reporting was
carried out using HGNC-approved gene nomenclature and mutation nomenclature following the HGVS
guidelines.

The ACMG has recommended a five-tier classification system. According to this system, a variant can
be classified as:

+ **Pathogenic:** This variant directly contributes to the development of disease. Some pathogenic
variants may not be fully penetrant. In the case of recessive or X-linked conditions, a single
pathogenic variant may not be sufficient to cause disease on its own. Additional evidence is not
expected to alter the classification of this variant.
+ **Likely pathogenic:** There is a high likelihood (greater than 90% certainty) that this variant is
disease-causing. Additional evidence is expected to confirm this assertion of pathogenicity, but
there is a small chance that new evidence may demonstrate that this variant does not have
clinical significance.
+ **Likely benign:** TThis variant is not expected to have a major effect on disease; however, the
scientific evidence is currently insufficient to prove this conclusively. Additional evidence is
expected to confirm this assertion, but we cannot fully rule out the possibility that new evidence
may demonstrate that this variant can contribute to disease.
+ **Benign:** This variant does not cause disease.
+ **Uncertain significance:** There is not enough information at this time to support a more definitive
classification of this variant.

If your raw data file is not a Whole Genome Sequencing or Clinical Exome sequencing file, then variants
such as insertions, deletions, copy number variations may not be present in your raw data and hence
will not be analyzed as part of this report.

Please refer to important disclaimer information at the end of this report.
