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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
GDF3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
|
Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States | 73 | 55 |
|
Klippel-Feil syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
Klippel-Feil syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
Klippel-Feil syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
PreventionGenetics, part of Exact Sciences United States | 9 | 6 |
|
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
|
Klippel-Feil syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
Klippel-Feil syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
Klippel-Feil syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 5 | 5 |
|
Klippel-Feil syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 4 | 4 |
|
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States | 244 | 78 |
|
Laboratorio de Genetica Clinica SL Spain | 4 | 4 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 135 | 136 |
|
Selected Genetic Syndromes with skeletal involvement Panel CeGaT GmbH Germany | 36 | 42 |
|
Developmental Eye Disease panel Molecular Vision Laboratory United States | 109 | 59 |
|
Fulgent Genetics United States | 3 | 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.