Through carrier screening, families at risk of such recessive Single gene diseases can be screened in healthy people, thereby reducing new cases of single gene diseases.
Carrier screening is using genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disease but may have one variant allele within a gene(s) associated with a diagnosis. Through carrier screening, families at risk of such recessive Single gene diseases can be screened in healthy people, thereby reducing new cases of single gene diseases.
- Genetic carrier screening applies to individuals considering reproduction, to those who are currently pregnant, and to the reproductive partner of an individual who is currently pregnant. These tests are performed on asymptomatic adults to identify pregnancies at increased risk for single gene disorders.
- This testing is generally performed on individuals who have not been diagnosed with, or do not show clinical characteristics of, the condition being tested for. Carrier screening may be performed before conception or during a pregnancy.
- This testing is also performed for conditions that are present in the fetus or embryo related to a known condition in one or both of the biological parents of the fetus/embryo.
- Targeted multi-gene panel:
- 172 common severe single gene diseases, involving genetic diseases that seriously affect lifespan and quality of life in multiple systems
- Technology: NGS
- Condition-specific disease
- Fragile X syndrome
- CGG segment duplication in FMR1 gene
- Technology: 3500Dx sequencing + Triplet repeat primed PCR (TP-PCR)
- Hemophilia
- SNV, Indel, Inv22, Inv1 in F8 gene
- Technology: NGS+Long PCR
- Fragile X syndrome
- R. Gregg et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG), Genetics in Medicine. 23, 1793 – 1806 (2021).