Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Renal calcifications (nephrocalcinosis) (NGS panel of 36 genes, including CNV analysis)) CGC Genetics Unilabs Portugal | 1 | 36 |
|
CGC Genetics Unilabs Portugal | 1 | 334 |
|
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes) CGC Genetics Unilabs Portugal | 1 | 3 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Nephrolithiasis panel. 35-gene NGS panel. Genologica Medica Spain | 60 | 35 |
|
Cystinuria panel. Panel NGS genes: SLC3A1, SLC7A9. Genologica Medica Spain | 1 | 2 |
|
Cystinuria: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 2 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
Nephrolithiasis and Nephrocalcinosis Panel GeneDx United States | 2 | 41 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 356 |
|
Fulgent Genetics United States | 1 | 3 |
|
Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic United States | 1 | 2 |
|
Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic United States | 21 | 170 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 2 |
|
Blueprint Genetics Finland | 5 | 35 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 2 | 3 |
|
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.