Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Neurotransmitter Disorders Panel Invitae United States | 52 | 44 |
|
Genetic Services Laboratory University of Chicago United States | 93 | 170 |
|
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
|
Invitae United States | 466 | 297 |
|
Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel Invitae United States | 10 | 8 |
|
PreventionGenetics, part of Exact Sciences United States | 6 | 6 |
|
Dihydropteridine Reductase (DHPR) Deficiency via the QDPR Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Baylor Genetics United States | 842 | 637 |
|
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 41 | 60 |
|
MNG Laboratories (Medical Neurogenetics, LLC.) United States | 414 | 800 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
CGC Genetics Unilabs Portugal | 1 | 832 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 234 | 240 |
|
Dystonia (WES based NGS panel of 117 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 117 |
|
Hyperphenylalaninemia (WES based NGS panel of 5 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 5 |
|
Hyperphenylalaninemia, C (sequence analysis of QDPR gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neonatal Baby Cheek Screening Test Mendelics Brazil | 1 | 342 |
|
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.