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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 13 | 24 |
|
Department of Clinical Genetics Odense University Hospital Denmark | 1 | 1 |
|
SLC16A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
|
Invitae United States | 173 | 119 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
|
PreventionGenetics, part of Exact Sciences United States | 131 | 115 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 106 | 83 |
|
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
|
Level 2: Expanded Congenital Hyperinsulinism Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States | 7 | 6 |
|
Congenital Hyperinsulinism Panel PreventionGenetics, part of Exact Sciences United States | 9 | 9 |
|
Baylor Genetics United States | 842 | 637 |
|
Comprehensive panel of monogenic diabetes. 28-gene NGS panel. Genologica Medica Spain | 60 | 28 |
|
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain | 73 | 50 |
|
Asper Biogene Asper Biogene LLC Estonia | 31 | 12 |
|
Congenital Hyperinsulinism Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States | 19 | 11 |
|
SLC16A1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States | 1 | 1 |
|
SLC16A1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 1 | 1 |
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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.