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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
PPP3CA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Genetic Services Laboratory University of Chicago United States | 47 | 125 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 600 |
|
Invitae United States | 466 | 297 |
|
Early Infantile Epileptic Encephalopathy Panel Genetic Services Laboratory University of Chicago United States | 47 | 125 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
|
CGC Genetics Unilabs Portugal | 1 | 832 |
|
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 |
|
Mendelics Brazil | 1 | 240 |
|
Mendelics Brazil | 1 | 333 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 696 |
|
Laboratorio de Genetica Clinica SL Spain | 1 | 152 |
|
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 416 |
|
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.