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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
|
STAMBP - 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 |
|
Centogene AG - the Rare Disease Company Germany | 777 | 770 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
|
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 247 | 161 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Vascular Malformations Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 24 | 28 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Microcephaly-capillary malformation syndrome (sequence analysis of STAMBP gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Microcephaly-Capillary Malformation Syndrome Center for Human Genetics Cliniques Universitaires Saint Luc Belgium | 1 | 1 |
|
Vascular malformations panel. 14-gene NGS panel. Genologica Medica Spain | 38 | 14 |
|
Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain | 63 | 48 |
|
Microcephaly-Capillary Malformation Syndrome (STAMBP Single Gene Test) Fulgent Genetics United States | 32 | 1 |
|
Blueprint Genetics Finland | 7 | 14 |
|
Microcephaly-Capillary Malformation Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 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.