Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Genetic Services Laboratory University of Chicago United States | 117 | 137 |
|
GNE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
|
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
|
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 480 | 254 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
Myriad Genetics, Inc. United States | 1 | 1 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 2 | 1 |
|
Congenital Disorders of Glycosylation (CDG) Panel PreventionGenetics, part of Exact Sciences United States | 56 | 54 |
|
Invitae Comprehensive Lysosomal Storage Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 87 | 57 |
|
Invitae Mucopolysaccharidoses Plus (MPS+) Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 38 | 27 |
|
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 185 | 142 |
|
Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 203 | 152 |
|
Invitae Comprehensive Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 143 | 70 |
|
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 353 | 208 |
|
Congenital Disorders of Glycosylation Panel Baylor Genetics United States | 29 | 27 |
|
PreventionGenetics, part of Exact Sciences United States | 21 | 21 |
|
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.