Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Nemaline Myopathy via the KLHL40 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Baylor Genetics United States | 1 | 142 |
|
Neuromuscular diseases panel_v.2.0 CGC Genetics Unilabs Portugal | 17 | 248 |
|
CGC Genetics Unilabs Portugal | 1 | 181 |
|
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 240 |
|
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil | 1 | 288 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 416 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 245 |
|
MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 250 |
|
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain | 135 | 69 |
|
Nemaline myopathy panel. NGS panel of 11 genes. Genologica Medica Spain | 15 | 11 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Prenatal Akinesia Arthrogryposis Panel GeneDx United States | 6 | 27 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
|
GeneDx United States | 156 | 91 |
|
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States | 1 | 1718 |
|
GeneDx United States | 1 | 1040 |
|
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.