Familial Testing

Parental testing policy: GeneDx recommends parental testing when a patient is found to have a genomic imbalance. Parental analysis is used to evaluate the inheritance of an abnormality (familial or de novo) and may also clarify the clinical significance of copy number changes. GeneDx uses FISH, quantitative PCR (qPCR), targeted CMA or G‐band chromosome analysis, as appropriate, for parental analysis.

  • For clinically well‐characterized genomic imbalances, parental analysis is available as a separate test for an additional cost. Additionally, testing other family members is available as a separate test for an additional cost. Price and CPT codes for known familial deletion/duplication test are provided below.
  • For genomic imbalances of unclear significance, GeneDx offers free parental analysis. The turn-around time for an updated report including parental results is 4-6 weeks.

Known Familial Deletion/Duplication Testing