FAMILIAL RISK ASSESSMENT
Once a pathogenic or likely pathogenic variant is identified in the proband, targeted testing of family members may be indicated to evaluate their risk.
- Targeted testing is less costly and more rapid than diagnostic analysis of the whole gene or panel of genes and will provide either a “negative” or “positive” result.
- GeneDx offers targeted testing for families whether they have had previous testing at GeneDx or another laboratory.
- Targeted testing for the familial variant(s) is available in any gene for both symptomatic and asymptomatic individuals, and for autosomal dominant and recessive, X-linked or maternally inherited mitochondrial variants.
- The ordering provider will need to provide information on the proband’s previous testing results, including the gene(s) and variant(s), when ordering (see links to the left for details).
- To order targeted testing for family members:
- Print out a GeneDx test requisition form or click here for online ordering.
- Select the desired test from the ‘Targeted Variant Testing’ section, which is located after the main test list on all requisition forms.
- Provide information on the proband’s previous testing results, including the gene(s) and variant(s) that need to be tested.
- Targeted testing for the familial variant(s) can be performed at a reduced cost of $99 for those meeting the following criteria. Click here for more information.
- Criteria for $99 Self-Pay Familial Variant Testing:
- Paying out-of-pocket (self-pay)
- Pathogenic or likely pathogenic variant(s) were identified through testing at GeneDx.
- *Exclusions: Mosaic Carrier Testing and mitochondrial variant testing by next-generation sequencing and in urine
VARIANT CLARIFICATION
When a variant of uncertain significance (VUS) is identified in the proband, testing family members may provide more information about the potential pathogenicity of the variant.
- GeneDx offers targeted testing for families whether they have had previous testing at GeneDx or another laboratory.
- Targeted testing for a VUS is available in any gene for both symptomatic and asymptomatic individuals, and for autosomal dominant and recessive, X-linked or maternally inherited mitochondrial variants.
- The ordering provider will need to provide information on the proband’s previous testing results, including the gene(s) and variant(s), when ordering (see links to the left for details)
- To order targeted testing for family members:
- Print out a GeneDx test requisition form or click here for online ordering.
- Select the desired test from the ‘Targeted Variant Testing’ section, which is located after the main test list on all requisition forms.
- Provide information on the proband’s previous testing results, including the gene(s) and variant(s) that need to be tested.
- If the VUS was identified through testing at GeneDx, families may be eligible for targeted testing at no additional charge through the Variant Testing Program. Click here for more information