Carrier/Variant-Specific Testing

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:
    1. Print out a GeneDx test requisition form or click here for online ordering.
    2. Select the desired test from the ‘Targeted Variant Testing’ section, which is located after the main test list on all requisition forms.
    3. 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:
      1. Paying out-of-pocket (self-pay)
      2. 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:
    1. Print out a GeneDx test requisition form or click here for online ordering.
    2. Select the desired test from the ‘Targeted Variant Testing’ section, which is located after the main test list on all requisition forms.
    3. 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