Cardiology and Pulmonology

Test Fact Sheets

Alpha-1-Antitrypsin Deficiency Testing
Aortopathy Panel, Sequencing and Deletion/Duplication
Birt-Hogg-Dubé Syndrome
Capillary Malformation-Arteriovenous Malformation
Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing
Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication
Cobalamin/Propionate/Homocysteine Metabolism-Related Disorders Panel
CYFRA 21-1 (Cytokeratin 19 Fragment) in Lung Cancer
Cystic Fibrosis (CFTR) Expanded Variant Panel
Cystic Fibrosis (CFTR) Sequencing and Deletion/Duplication
Dilated Cardiomyopathy Panel, Sequencing
Duchenne/Becker Muscular Dystrophy Deletion/Duplication With Reflex to Sequencing
Emery-Dreifuss Muscular Dystrophy Panel, Sequencing
Factor V Leiden (F5) R506Q Variant
Familial Hypercholesterolemia Panel, Sequencing
Familial Mediterranean Fever (MEFV) Sequencing
Familial Transthyretin Amyloidosis (TTR) Sequencing
Fatty Acid Oxidation Disorders Panel, Sequencing
Glycogen Storage Disorders Panel, Sequencing
Hereditary Hemorrhagic Telangiectasia Panel
Heterotaxy and Situs Inversus Panel
Hypertrophic Cardiomyopathy Panel, Sequencing
Loeys-Dietz Syndrome Core Panel, Sequencing
Long QT Panel, Sequencing and Deletion/Duplication
Lung Cancer Mutation Panel
Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
Multiple Myeloma Panel by FISH
Myotonic Dystrophy Type 1 (DMPK)
Plasminogen Activator Inhibitor-1 (SERPINE1) Genotyping
Primary Ciliary Dyskinesia Panel
Pulmonary Arterial Hypertension Panel, Sequencing and Deletion/Duplication
Vascular Malformations Panel, Sequencing and Deletion/Duplication
Very Long-Chain Acyl-CoA Dehydrogenase (ACADVL) Deficiency