Genetic Test Details

Rare Familial Mutations

Test Information

Title
Rare Familial Mutations
Category
Genome-wide
Sub Category
Known Familial Variant
Test type
Single Gene
Samples Accepted
Amniocyte , Blood , Cultured Cells , CVS , DNA
Indications
Carrier Cascade Testing , Diagnosis , Prenatal
Test Methodology
CNV , LR-PCR , Sequencing
Methodology Notes
MLPA

Last Updated: June 23, 2025