Cystic Fibrosis

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