Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
|
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 |
|
Disorders of Fatty Acid Oxidation (FAOD) Panel PreventionGenetics, part of Exact Sciences United States | 32 | 32 |
|
Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
|
PreventionGenetics, part of Exact Sciences United States | 38 | 38 |
|
Invitae Fatty Acid Oxidation Defects Panel Invitae United States | 28 | 25 |
|
CGC Genetics Unilabs Portugal | 1 | 837 |
|
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
|
Hypoglycemia (WES based NGS panel of 62 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 62 |
|
3-hydroxy-3-methylglutaryl-CoA synthase deficiency (sequence analysis of HMGCS2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Neonatal Baby Cheek Screening Test Mendelics Brazil | 1 | 342 |
|
Mendelics Brazil | 1 | 369 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
|
Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States | 1 | 695 |
|
Hyperammonemia and urea cycle disorders panel. 48-gene NGS panel. Genologica Medica Spain | 49 | 48 |
|
Fatty acid oxidation syndrome panel. NGS panel of 26 genes. Genologica Medica Spain | 30 | 26 |
|
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain | 73 | 50 |
|
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