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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 486 | 293 |
|
Invitae Broad Carrier Screen without X-linked Disorders Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 98 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 224 | 112 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
Rhizomelic Chondrodysplasia Punctata Type 1 Myriad Genetics, Inc. United States | 3 | 1 |
|
Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 7 |
|
Molecular Vision Laboratory United States | 342 | 268 |
|
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 257 | 191 |
|
Invitae Zellweger Spectrum Disorder Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 36 | 18 |
|
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 201 | 158 |
|
PreventionGenetics, part of Exact Sciences United States | 36 | 27 |
|
Refsum Disease via the PHYH 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 |
|
Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain | 58 | 31 |
|
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
|
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
|
Genologica Medica Spain | 164 | 108 |
|
Peroxisomal disorders panel. NGS panel of 27 genes. Genologica Medica Spain | 45 | 27 |
|
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
|
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.