Family Member Previously Tested at GeneDx

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:
1. The name of the gene
2. The variant 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 Mitochondrial (mtDNA) Variants:
1. The name of the gene
2. 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.