Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Paroxysmal nonkinesigenic dyskinesia 1 (deletion/duplication analysis on PNKD gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Comprehensive Nephrology Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 299 |
|
Cystic Kidney Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 16 | 44 |
|
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 693 | 388 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
IQCB1 - 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 Nephronophthisis Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 54 | 27 |
|
Invitae Cystic Kidney Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 96 | 44 |
|
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 |
|
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 Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 310 | 195 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 525 | 338 |
|
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.