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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
|
Noonan - RASophathies Panel NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
LARP7 Gene Alazami syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 18 | 32 |
|
LARP7 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Invitae United States | 48 | 38 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
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 |
|
Primordial Dwarfism via the LARP7 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 1293 |
|
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 104 |
|
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 152 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
|
3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain | 33 | 24 |
|
Alazami syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
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