Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
Rapid microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
|
NFIA - 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 | 777 | 770 |
|
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 404 | 241 |
|
Invitae Overgrowth Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 96 | 53 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 145 | 112 |
|
Genetic Services Laboratory University of Chicago United States | 26 | 68 |
|
CGC Genetics Unilabs Portugal | 1 | 1307 |
|
CGC Genetics Unilabs Portugal | 1 | 662 |
|
MACROCEPHALY AND OVERGROWTH SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 80 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Brain malformations with or without urinary tract defects: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States | 1 | 45 |
|
Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 19 | 560 |
|
GeneDx United States | 2 | 2592 |
|
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.