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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Non-dystrophic myotonia (SCN4A gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) type I and II (FOXL2 gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Glycoprotein VI deficiency (GP6 gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Fetal sex determination by real-time PCR Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 0 |
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Chromosome Y, specific regions Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Sensorineural hearing loss, connexin 26 and 30 (GJB2 and GJB6 genes) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 2 |
|
Alpha1-antitrypsin deficiency (SERPINA1 gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Microdeletion / Microduplication Syndromes Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 28 | 39 |
|
Comparative genomic hybridization (aCGH-SNP) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 4 | 1 |
|
Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Familial hyperaldosteronism type I (Chimeric CYP11B1/CYP11B2 gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 2 |
|
Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
Medium-chain acyl-CoA dehydrogenase deficiency (ACADM gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 1 | 1 |
|
22q11.2 Microdeletion syndrome (DiGeorge Syndrome) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile | 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.