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: April 22, 2026