Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Acute/Neurovisceral Porphyria Panel PreventionGenetics, part of Exact Sciences United States | 4 | 4 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Acute porphyria (WES based NGS panel of 9 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 9 |
|
Porphyria (deletion/duplication analysis of HMBS, ALAD and PPOX genes) CGC Genetics Unilabs Portugal | 1 | 3 |
|
Porphyria of Doss (sequence analysis of ALAD gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 369 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Porphyria panel. 9-gene NGS panel. Genologica Medica Spain | 13 | 9 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Porphyria Disorders (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 4 | 10 |
|
GeneDx United States | 2 | 2592 |
|
GeneDx United States | 1 | 999 |
|
GeneDx United States | 1 | 1501 |
|
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
|
Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 356 |
|
Fulgent Genetics United States | 15 | 11 |
|
Invitae Acute Hepatic Porphyrias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 5 | 4 |
|
PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
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.