What information do I need to provide to order targeted variant testing on an individual when their family member was tested at another diagnostic laboratory?
- If available, please submit the outside molecular diagnostics laboratory report on the family member.
- If this is not available, please identify the variant:
- For Nuclear Gene Variants:
- The name of the gene
- The variant in cDNA-level notation (e.g. residue c.123 G to T, where c.1 is the A of the initiator ATG)
- One of the following:
- The mutation given in protein-level notation (e.g. Gly12Ser or G12S)
- The mutation given in gDNA-level notation, with reference to a specific public reference sequence
- A DNA sequence at least 30 bases long with the mutated base and mutation indicated
- The name of the gene
- The position in the mitogenome (m.) using reference sequence NC_012920
How do I order targeted variant testing on an individual when their family member was tested at another diagnostic laboratory?
- Use a GeneDx Test Requisition Form or order online.
- Select Targeted Variant Testing (Inherited Cancer Requisition) or Targeted Variant Testing and Special Services (all other requisitions).
- Provide the name of the gene and name of the variant (using the format above).
- Enclose a copy of the outside diagnostics laboratory report, if available.
- For mitochondrial DNA (mtDNA) variants, select one of the Known mtDNA Variant(s) test options.
- Please refer to our Specimen Requirements page prior to submitting a specimen: https://www.genedx.com/specimen-requirements/
Is a positive control required?
- No, a positive control is not required but it is highly recommended.*
- Without a positive control, we may not be able to confirm that a negative result is truly negative.
- Please label the test requisition form for the positive control individual with “Positive Control Only – No Report”.
- If requested, a report for the positive control family member is available for an additional fee.
- Please call one of our genetic counselors if you would like to discuss the submission of a positive control.
*A positive control is not needed for mtDNA variants
What is the turn-around time?
- Results are generally available in 2-3 weeks.
- Written report(s) are sent to the ordering health care provider.