Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Congenital Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 107 | 55 |
|
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 130 | 81 |
|
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States | 191 | 141 |
|
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 240 | 171 |
|
Oculofaciocardiodental Syndrome and Lenz Microphthalmia Syndrome via the BCOR Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Molecular Vision Laboratory United States | 1 | 1 |
|
Syndromic microphthalmia 2 (sequence analysis of BCOR gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
BCOR Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
|
Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 136 | 90 |
|
Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 210 | 139 |
|
Microphthalmia, syndromic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 14 | 11 |
|
Fulgent Genetics United States | 49 | 15 |
|
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States | 563 | 241 |
|
Oculofaciocardiodental Syndrome (BCOR Single Gene Test) Fulgent Genetics United States | 2 | 1 |
|
Congenital Heart Defect NGS Panel Fulgent Genetics United States | 377 | 114 |
|
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States | 244 | 78 |
|
OCULOFACIOCARDIODENTAL SYNDROME (OFCD) Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 135 | 136 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 46 | 32 |
|
Abnormal/Ambiguous Genitalia Panel Genetic Services Laboratory University of Chicago United States | 81 | 91 |
|
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.