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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 17 | 367 |
|
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 69 |
|
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 231 |
|
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
|
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 240 |
|
Van den Ende-Gupta syndrome (sequence analysis of SCARF2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 245 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 85 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States | 1 | 695 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
GeneDx United States | 156 | 91 |
|
Custom Cardiology Sequencing and Del/Dup Panel GeneDx United States | 30 | 270 |
|
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.