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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Retinitis pigmentosa 43 (sequence analysis of PDE6A gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
SLC6A19 Gene Hartnup disorder NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 199 |
|
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 299 |
|
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 693 | 388 |
|
Centogene AG - the Rare Disease Company Germany | 195 | 205 |
|
SLC6A19 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 351 | 249 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
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 Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 247 | 163 |
|
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.