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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
ZFHX4 Gene Ptosis, congenital NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Nuclear Mitochondrial Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 221 |
|
Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 12 | 221 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
ACACA - 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 | 406 | 414 |
|
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
|
Fatty Acid Oxidation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 44 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
|
Baylor Genetics United States | 842 | 637 |
|
ACACA Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 1 | 1 |
|
Baylor Genetics United States | 1 | 1 |
|
ACACA Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
|
ACACA Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Acetyl-CoA carboxylase deficiency: Full 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.