Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 525 | 338 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 171 | 137 |
|
Ambry Genetics United States | 6 | 6 |
|
CFTR gene sequence and deletion/duplication Ambry Genetics United States | 4 | 1 |
|
CFTR 508FIRST™ reflex gene sequence and deletion/duplication Ambry Genetics United States | 4 | 1 |
|
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 201 | 158 |
|
Invitae Primary Ciliary Dyskinesia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 49 | 37 |
|
CFTR Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 4 | 1 |
|
CFTR Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 4 | 1 |
|
Baylor Genetics United States | 4 | 1 |
|
CFTR Deletion/Duplication Analysis Baylor Genetics United States | 4 | 1 |
|
CFTR Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 4 | 1 |
|
Baylor Genetics United States | 4 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 4 | 1 |
|
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain | 88 | 46 |
|
Cystic fibrosis (panel 50 mutations) Genologica Medica Spain | 4 | 1 |
|
Genologica Medica Spain | 25 | 11 |
|
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain | 115 | 66 |
|
Bronchiectasis panel. NGS panel of 15 genes. Genologica Medica Spain | 19 | 15 |
|
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.