Clinical and research tests for C0154246 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Urea Cycle Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	13	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGmax™ - Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel PreventionGenetics, part of Exact Sciences United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Urea Cycle Disorders Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amino acid, urine, quantitative IU Genetic Testing Laboratories Indiana University School of Medicine United States	11	41	A Analyte
Amino acid, plasma, quantitative IU Genetic Testing Laboratories Indiana University School of Medicine United States	8	34	A Analyte
Amino Acid, Quantitative, Plasma Biochemical Genetics Laboratory LabCorp United States	3	1	A Analyte
Organic Acid Analysis, Urine Biochemical Genetics Laboratory LabCorp United States	4	1	A Analyte
Hyperammonemia, Urea Cycle & Transporter Defects Panel GeneDx United States	2	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Orotic Acid, Urine with Creatinine Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	1	A Analyte
Orotic Acid, Urine Biochemical Genetics Laboratory LabCorp United States	4	1	A Analyte
Invitae Ornithine Transcarbamylase (OTC) Deficiency Test Invitae United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Low Citrulline Panel Invitae United States	7	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperammonemia and Urea Cycle Disorder Panel Blueprint Genetics Finland	2	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism Panel Blueprint Genetics Finland	14	434	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Urea Cycle Disorders Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	2	6	C Sequence analysis of the entire coding region
Invitae Elevated Citrulline (Citrullinemia) Panel Invitae United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Urea Cycle Disorders Panel Invitae United States	13	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated Arginine (Arginase Deficiency) Panel Invitae United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carbamoyl-phosphate synthase 1, mitochondrial (CPS1) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands	1	1	A Analyte C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.