Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CGC Genetics Unilabs Portugal | 1 | 832 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 104 |
|
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
|
Polymicrogyria with seizures (sequence analysis of RTTN gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 240 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 696 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 152 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain | 63 | 48 |
|
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain | 110 | 57 |
|
3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain | 33 | 24 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Genetics Laboratory University of Oklahoma Health Sciences Center United States | 1 | 86 |
|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
|
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States | 1 | 1718 |
|
GeneDx United States | 1 | 1040 |
|
Comprehensive Brain Malformations Panel GeneDx United States | 19 | 103 |
|
Two Known Familial Variants in a Nuclear Gene GeneDx United States | 1 | 1043 |
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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.