Test Information |
Test Name |
Cystic Fibrosis |
Lab (Location) |
The Hospital for Sick Children |
Category |
Respiratory |
Subcategory |
Cystic Fibrosis |
Gene/Platform/Region List |
CFTR |
Test type |
Single Gene |
Samples Accepted |
Blood, DNA, DNA (Not Accepted for MLPA) |
Indications Diagnosis |
Carrier / Cascade Testing, Prenatal |
Test Methodology |
CNV, Sequencing |
Methodology Notes |
Luminex CF39 kit; MLPA; Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing |
Diseases/Conditions |
Cystic Fibrosis, Congenital Bilateral Absence of the Vas Deferens (CBAVD), CFTR-related hereditary pancreatitis, Bronchiectasis, Mucoviscidosis |
Notes |
DNA not accepted for MLPA |