GeneDx can provide Mutation-Specific Testing for known familial mutations, in any gene, for families that have had previous testing at GeneDx or elsewhere. Mutation-Specific Testing always requires that sufficient information is provided (see links below for details). Mutation-Specific Testing is offered for both symptomatic and asymptomatic individuals, and for dominant, recessive, X-linked or maternally inherited mutations. Mutation-Specific Testing is less costly and more rapid than diagnostic analysis of the whole gene. Pricing is dependent on whether testing is done for one or two mutations.
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.
To order this test, please 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 Cardiology mutation-specific testing please click here to fill out the Cardiology Form.
For Neurology mutation-specific testing please click here to fill out the Neurology Form.