Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
PRPF4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 486 | 293 |
|
Retinitis Pigmentosa, autosomal dominant and X-linked Amplexa Genetics Amplexa Genetics A/S Denmark | 2 | 30 |
|
Molecular Vision Laboratory United States | 342 | 268 |
|
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States | 1 | 394 |
|
CGC Genetics Unilabs Portugal | 1 | 203 |
|
CGC Genetics Unilabs Portugal | 1 | 306 |
|
CGC Genetics Unilabs Portugal | 1 | 223 |
|
Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 307 |
|
Mendelics Brazil | 1 | 321 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Genologica Medica Spain | 164 | 108 |
|
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Retinitis pigmentosa: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 75 | 71 |
|
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.