Rare Familial Mutations

Test Information

Title
Rare Familial Mutations
Category
Genomes
Test Name (CMS Title)
Known Familial Variant
Test type
Single Gene
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing, Diagnosis
Test Methodology
LR-PCR, Sequencing
Methodology Notes
MLPA

Last Updated: November 14, 2025