Previously Tested at Research Facility

Info Sheet   

We can analyze any gene to confirm a mutation that has been identified in a research laboratory. Unlike most research laboratories, GeneDx, being a clinical service laboratory, holds CLIA certification and can release results of testing to referring physicians for use in diagnosis, counseling, and development of a treatment plan.

What is the process?

Testing through GeneDx must be ordered by a physician, genetic counselor or other health care professional.A new sample (either blood or buccal brushes) from the individual is required to determine if the mutation is present. Confirmation of the mutation in a previously tested individual is necessary before we can perform carrier testing or prenatal diagnosis in a family.Please Note: Prenatal testing is not available for mtDNA mutations.

If the research lab has not completed analysis of the implicated gene or if they have not identified a mutation after performing the screening tests, GeneDx may be able, in some cases, to develop a new test to sequence the gene or genes known to be associated with the diagnosis. If there is a gene for which you would like to see testing made available, please let us know.

What information is required when ordering a mutation confirmation test?

Mutation information should be provided to GeneDx in advance, in the form of a publication, lab report, or other communication from the laboratory in which the mutation was previously observed. To clearly identify the mutation, please provide:

For Nuclear Gene Mutations:

  1. The name of the gene
  2. The mutation in cDNA-level notation (e.g. residue c.123 G to T, where c.1 is the A of the initiator ATG)
  3. One of the following:
    1. The mutation given in protein-level notation (e.g. Gly12Ser or G12S)
    2. The mutation given in gDNA-level notation, with reference to a specific public reference sequence
    3. A DNA sequence at least 30 bases long with the mutated base and mutation indicated

For mtDNA Mutations:

  1. The name of the gene
  2. The position in the mitogenome (m.) using reference sequence NC_012920

How is Mutation Confirmation ordered?

Using the GeneDx Sample Submission Form (Rare Disorders Requisition), select “Confirmation of mutation identified elsewhere” in the boxed section of the test list on page 2. Provide the name of the gene and name of the mutation. Also enclose a copy of the research report, if available. For mitochondrial DNA (mtDNA) mutations, use the Neurology Test Requisition Form and select #453, #9017 or #9020 from the boxed section at the bottom of the second page.

What is the turn-around time?

Results of mutation confirmations are generally available in 3-4 weeks. A written report is faxed to the referring health professional.
(We will occasionally consider doing complete sequence analysis of a gene that is not in our current menu of tests. Please contact GeneDx directly).

Results of mutation confirmations are generally available in 3-4 weeks. A written report is faxed to the referring health professional, and the hard copy is also mailed.

(We will occasionally consider doing complete sequence analysis of a gene that is not in our current menu of tests. Please contact GeneDx directly).