Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Hyperekplexia 3 (sequence analysis of SLC6A5 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neonatal Baby Cheek Screening Test Mendelics Brazil | 1 | 342 |
|
Mendelics Brazil | 1 | 369 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 696 |
|
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 416 |
|
MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 250 |
|
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain | 115 | 66 |
|
Central hypoventilation and apnea panel. NGS panel of 15 genes. Genologica Medica Spain | 37 | 15 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
GeneDx United States | 2 | 2592 |
|
GeneDx United States | 1 | 1501 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
Hyperekplexia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 4 | 4 |
|
Neurotransmitter Metabolism Deficiency NGS Panel Fulgent Genetics United States | 85 | 101 |
|
Laboratorio de Genetica Clinica SL Spain | 4 | 5 |
|
Glycine transporter 2 deficiency (SLC6A5) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands | 1 | 1 |
|
Central Hypoventilation and Apnea Panel Blueprint Genetics Finland | 4 | 15 |
|
Comprehensive Pulmonology Panel Blueprint Genetics Finland | 5 | 66 |
|
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.