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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
Rapid microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Short stature, idiopathic familial, 300582; SDDHD (SHOX-related short stature) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Short stature, idiopathic, X-linked Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Short stature, idiopathic, X-linked Sequencing Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Short stature, idiopathic, X-linked Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 240 | 171 |
|
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene PreventionGenetics, part of Exact Sciences United States | 3 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 3 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 3 | 1 |
|
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
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Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain | 83 | 27 |
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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.