Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
|
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark | 1 | 600 |
|
Microcephalic primordial dwarfism NGS panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
|
Microcephalic primordial dwarfism Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
|
Microcephalic primordial dwarfism Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 23 | 21 |
|
Primary Microcephaly, Autosomal Recessive, via the CEP152 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
|
Primary Microcephaly, Autosomal Recessive, Panel PreventionGenetics, part of Exact Sciences United States | 10 | 10 |
|
Baylor Genetics United States | 1 | 354 |
|
Microcephaly and pontocerebellar hypoplasia (WES based panel of 53 genes, incluiding CNV analysis) CGC Genetics Unilabs Portugal | 1 | 53 |
|
CGC Genetics Unilabs Portugal | 1 | 1307 |
|
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 104 |
|
Cerebral vascular malformations (WES based NGS panel of 30 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 30 |
|
CGC Genetics Unilabs Portugal | 1 | 662 |
|
Seckel syndrome (NGS panel of 11 genes) CGC Genetics Unilabs Portugal | 1 | 11 |
|
Microcephaly 9, primary, AR (sequence analysis of CEP152 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Clinically Recognized Syndromes Panel Mendelics Brazil | 1 | 236 |
|
Mendelics Brazil | 1 | 67 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
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.