Carrier Screening

Carrier Screening can help couples learn their risk of passing on certain genetic conditions to their offspring, regardless of family history
Quick Reference
Test Code: 9082 Test Name: Carrier Screening CF+SMA TAT 10-14 days Genes: 2
Test Code: 9083 Test Name: Carrier Screening Ashkenazi Jewish Panel TAT 10-14 days Genes: 48
Test Code: 9084-A Test Name: Carrier Screening Fragile-X Screening TAT 10-14 days Gene: 1
Test Code: 9085-A Test Name: Carrier Screening Guidelines-Based Panel TAT 10-14 days Genes: 163
Test Code: 9086 Test Name: Carrier Screening Comprehensive Panel TAT 10-14 days Genes: 418

Ordering Options


Why Is This Important?

  1. Identify individuals at risk for having offspring with genetic conditions
  2. Enable individuals to understand reproductive risk(s) and options
  3. Offer pre-pregnancy and allow individuals to consider options such as pre-implantation genetic testing or sperm/egg donor
  4. Help identify resources for parents to plan for a child born with a genetic condition
  5. Help provide a peace of mind for parents who are not at increased risk based on test results
  6. The American College of Medical Genetics and Genomics (ACMG) recommends informed decision-making as a part of the carrier screening and NIPT process.

Limitations

  1. May not provide detection of certain genes or portions of certain genes due to local sequence characteristics or presence of closely related pseudogenes
  2. Changes in repetitive sequences may not be accurately identified by this methodology
  3. Data interpretation is based on current understanding of genes and variants at the time of reporting
  4. A negative result reduces but does not eliminate the possibility of the individual being a carrier

When To Consider Testing

  1. Pre-pregnancy is the ideal time to order testing and allows for the most reproductive options for a carrier couple
  2. Screening early in pregnancy (first trimester) is preferred

Test Description

  1. Includes up to 421 genes or autosomal recessive and X-linked disorders
  2. Pathogenic and likely pathogenic results are reported
  3. Variants of Unknown Significance (VUS) are not typically reported in carrier testing, as there is limited clinical value
  4. Data interpretation is based on current understanding of the gene and variants at the time of reporting. Routine variant reclassification is not provided but is available upon request for a specific gene
  5. Next-generation sequencing with sequencing variant and CNV analysis for most genes; Fragile X testing with repeat expansion analysis
  6. 99% detection rate across most genes and ethnicities
  7. Disease-specific clinical information provided on all positive reports
  8. Backed by a support team of lab directors, variant scientists, and genetic counselors

Ambry Genetics does not provide prenatal diagnosis for all conditions included in carrier screening. Individuals desiring prenatal diagnosis for an at-risk fetus should be referred for genetic counseling and coordination of additional testing.

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