Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Dystrophy of cones and rods (WES based NGS panel of 38 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal | 1 | 21 |
|
Lipodystrophies and progeroid syndromes (WES based NGS panel of 25 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 25 |
|
CGC Genetics Unilabs Portugal | 1 | 662 |
|
Mendelics Brazil | 1 | 333 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel. Genologica Medica Spain | 69 | 28 |
|
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 37 |
|
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Blueprint Genetics Finland | 2 | 308 |
|
Comprehensive Skeletal Dysplasias and Disorders Panel Blueprint Genetics Finland | 1 | 246 |
|
Blueprint Genetics Finland | 1 | 260 |
|
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Blueprint Genetics Finland | 2 | 28 |
|
Fulgent Genetics United States | 34 | 1 |
|
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel CeGaT GmbH Germany | 27 | 27 |
|
CeGaT GmbH Germany | 14 | 40 |
|
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States | 1018 | 459 |
|
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.