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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Comprehensive Lysosomal Storage Disorders Panel Invitae United States | 87 | 57 |
|
Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
|
Invitae Hereditary Motor Neuropathy Panel Invitae United States | 60 | 26 |
|
Invitae United States | 466 | 297 |
|
Invitae Periodic Fever Syndromes Panel Invitae United States | 32 | 18 |
|
Invitae Comprehensive Neuropathies Panel Invitae United States | 201 | 96 |
|
Farber Lipogranulomatosis via the ASAH1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain | 175 | 102 |
|
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain | 409 | 283 |
|
Neuronal ceroid lipofuscinosis and progressive myoclonic epilepsy panel. 31-gene NGS panel. Genologica Medica Spain | 46 | 31 |
|
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain | 65 | 30 |
|
Lysosomal Storage Diseases Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey | 50 | 43 |
|
Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States | 93 | 29 |
|
Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
|
Farber Lipogranulomatosis (ASAH1 Single Gene Test) Fulgent Genetics United States | 2 | 1 |
|
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Reference Laboratory Genetics Spain | 108 | 82 |
|
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Reference Laboratory Genetics Spain | 109 | 78 |
|
Asper Biogene Asper Biogene LLC Estonia | 70 | 50 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
ASAH1 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 2 | 1 |
|
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.