Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Detection by FISH of sexual chromosomes (X/SRY) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
|
RDH12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 498 | 498 |
|
Centogene AG - the Rare Disease Company Germany | 417 | 413 |
|
Centogene AG - the Rare Disease Company Germany | 499 | 499 |
|
Invitae Macular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 66 | 36 |
|
Leber congenital amaurosis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 32 |
|
Leber congenital amaurosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 32 |
|
Leber congenital amaurosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 32 |
|
Genome-Nilou Lab Iran | 110 | 146 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Retinitis Pigmentosa, autosomal recessive and X-linked Amplexa Genetics Amplexa Genetics A/S Denmark | 2 | 65 |
|
Retinitis Pigmentosa, autosomal dominant and X-linked Amplexa Genetics Amplexa Genetics A/S Denmark | 2 | 30 |
|
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.