Description
This test is designed for targeted mutation analysis in family members to determine whether they carry the same variant(s) identified in a previously tested relative (the proband). It can be used to detect pathogenic variants, likely pathogenic variants, and variants of uncertain significance (VUS) that have been found in the proband. This analysis helps assess familial risk and guides clinical decisions for relatives.
Gene/Variant Submission Format:
To avoid processing delays, please submit gene and variant details using standard HGVS nomenclature. Be sure to include the reference sequence and variant description, whether using g.nomen or c.nomen formats. The ClinVar database can be helpful for searching targeted variants with HGVS formats. If you have any questions about submission formats, please contact us at [email protected].
Example:
Gene: NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter)
(GRCh37-hg19)
This targeted approach ensures accurate identification of familial variants and personalized genetic counselling for families.
TAT
3-4 weeks
Accepted Sample requirements
EDTA Blood, DNA