What is Known Mutation Testing (KMT)?
This testing is appropriate for targeted mutation analysis of family members to determine whether they share the same variant(s) as a relative who has already been tested (the proband). This test can be used to analyze pathogenic variants, likely pathogenic variants, and variants of uncertain significance as identified in the proband.
Specifications
Turnaround Time: 2-3 weeks
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What is Familial Known Mutation Testing (FKMT)?
This testing is appropriate for targeted mutation analysis of the biological parents to determine whether they share the same variant(s) as a relative who has already been tested (the proband) previously at Fulgent. This test can analyze only variants of uncertain significance (VUS) as identified in the proband. This test is only available as complimentary, no-cost Familial Known Mutation Testing for certain situations that meet the criteria listed in our Segregation Policy.
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GENE/VARIANT SUBMISSION FORMAT
To prevent delays in processing, please provide gene and variant details using standard HGVS nomenclature. Reference sequence and variant description must be provided for g.nomen or c.nomen submissions. ClinVar, a public archive of human genetic variants, can be used to search for targeted variants with HGVS formats.
Example: GENE, NM_004006.2:c.4375C>T (GRCh37-hg19)
Please contact us at clientservices@fulgentgenetics.com if you have any questions.
Want to learn more about our Segregation Policy?
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