Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing ARUP Laboratories, Molecular Oncology ARUP Laboratories United States | 6 | 65 |
|
Arthrogryposis (NGS panel for 49 genes) CGC Genetics Unilabs Portugal | 1 | 49 |
|
CGC Genetics Unilabs Portugal | 17 | 367 |
|
Spinal muscular atrophy (WES based NGS panel of 29 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 29 |
|
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 240 |
|
CGC Genetics Unilabs Portugal | 1 | 1 |
|
VEXAS syndrome (search for somatic variants in codon 41 of the UBA1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Spinal muscular atrophy, X-linked 2, infantile (deletions/duplications analysis of UBA1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil | 1 | 288 |
|
SPINAL MUSCULAR ATROPHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 46 |
|
CHARCOT-MARIE-TOOTH EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 151 |
|
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 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
AUTOINFLAMMATORY SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 108 |
|
Predominantly distal muscular atrophy Genologica Medica Spain | 43 | 18 |
|
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain | 65 | 30 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
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.