Inheritance Pattern
STEPS when family member was previously tested at GeneDx	Autosomal Dominant	X-Linked	Autosomal Recessive
1. Mutation-Specific Testing in both parents of proband prior to testing other family members	Recommended	Recommended	Strongly Recommended*
2. Using the GeneDx Sample Submission Form (Requisition), select Carrier Detection in Relatives  (#9011-one mutation; 9012-two mutations) from the boxed section on the last page of the test list.    a) Provide the name of the gene   b) Provide the name of the mutation   c) Provide the GeneDx accession number or the full name of the positive relative that we previously tested.	Required	Required	Required
3. Submit specimen.  Our standard specimens for all tests are one pair of GeneDx buccal brushes or a single tube with 1-5 mL blood in EDTA.  DNA specimens are also accepted.  Please see our standard Sample Requirements page. Gene deletion/duplication testing requires the submission of blood in EDTA.	TAT will be 2-3 weeks in most cases	TAT will be 2-3 weeks in most cases	TAT will be 2-3 weeks in most cases

*Mutation-specific testing in both parents of a child with recessive mutations is recommended to confirm that all four parental alleles can be detected prior to the testing of other family members.  If the child has an apparently homozygous recessive mutation, mutation-specific testing in both parents is strongly recommended to rule out the possibility that the child has one mutated allele and one allele that is deleted or refractory to amplification.


Click here for the Sample Submission form (Requisition). Use the Special Services menu located at the top of the second page of the submission form, and please provide information about the mutation in the box on the right side of the page.

For specimen requirements click here

Click here for Mutation-Specific Testing CPT codes and pricing

Click here for Deletion/Duplication-Specific Testing CPT codes and pricing