What information do I need to provide to order targeted variant testing on an individual when their family member was tested at GeneDx?
- If available, please submit the GeneDx laboratory report on the family member.
- If this is not available, please list the variant and provide the family member’s specimen ID/name/date of birth
- 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
- For Mitochondrial (mtDNA) Variants:
- 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 GeneDx?
- 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).
- Provide the family member’s specimen ID Number/name/date of birth.
- Enclose a copy of the GeneDx report on the family member, 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/
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.