Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Quantitative Genomic Medicine Laboratories, SL Spain | 184 | 162 |
|
Langer mesomelic dysplasia Sequencing Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Leri-Weill dyschondrosteosis Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Langer mesomelic dysplasia Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Langer mesomelic dysplasia Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Leri-Weill dyschondrosteosis Sequencing Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
Leri-Weill dyschondrosteosis Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
|
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 |
|
MNG Laboratories (Medical Neurogenetics, LLC.) United States | 3 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 3 | 1 |
|
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 141 |
|
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 104 |
|
Lysosomal and peroxisomal diseases (WES based NGS panel of 122 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal | 1 | 122 |
|
CGC Genetics Unilabs Portugal | 1 | 662 |
|
CGC Genetics Unilabs Portugal | 1 | 1 |
|
Short stature, X-linked , Leri-Weill dyschondrosteosis (sequence analysis of SHOX gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
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.