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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Cataract panel. NGS panel of 69 genes. Genologica Medica Spain | 146 | 69 |
|
Branchial-Oto-Renal Syndrome Panel. Panel NGS genes: EYA1, SIX1, SIX5, TFAP2A. Genologica Medica Spain | 7 | 4 |
|
GeneDx United States | 56 | 150 |
|
TFAP2A Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
|
EYA1 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
|
Branchio-Oculo-Facial Syndrome (TFAP2A Single Gene Test) Fulgent Genetics United States | 1 | 1 |
|
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States | 223 | 83 |
|
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States | 332 | 167 |
|
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States | 244 | 78 |
|
Branchiooculofacial Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
|
Hearing Loss Advanced Sequencing and CNV Evaluation Athena Diagnostics United States | 249 | 184 |
|
BOF SYNDROME (BRANCHIO-OCULO-FACIAL) Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
|
Branchio-Oculo-Facial Syndrome , Sequencing TFAP2A Reference Laboratory Genetics Spain | 1 | 1 |
|
Department of Clinical Genetics Copenhagen University Hospital, Rigshospitalet Denmark | 11 | 29 |
|
Quantitative Genomic Medicine Laboratories, SL Spain | 135 | 136 |
|
Bioarray Spain | 1 | 1 |
|
Fulgent Genetics United States | 1 | 1 |
|
Fulgent Genetics United States | 5129 | 4672 |
|
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States | 1018 | 459 |
|
Branchio-oculo-facial syndrome Center for Human Genetics, Inc United States | 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.