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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
CCDC115 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 734 | 744 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 210 | 134 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
|
Congenital Disorders of Glycosylation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 141 |
|
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 |
|
CCDC115 - Congenital disorder of glycosylation type IIo Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Congenital Disorders of Glycosylation (CDG) Panel PreventionGenetics, part of Exact Sciences United States | 56 | 54 |
|
Invitae Copper Metabolism Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 15 | 10 |
|
Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 203 | 152 |
|
MNG Laboratories (Medical Neurogenetics, LLC.) United States | 414 | 800 |
|
Hereditary ataxias panel_v.2.0 CGC Genetics Unilabs Portugal | 1 | 427 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
CGC Genetics Unilabs Portugal | 1 | 1307 |
|
Congenital glycosylation disease type IIo (sequence analysis CCDC115 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.