Clinical and research tests for C0175683 - Genetic Testing Registry (GTR)

Results: 1 to 18 of 18

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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	326	300	C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	287	578	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 300 PLUS Panel Integrated Genetics Westborough LabCorp United States	172	350	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Inheritest 100 PLUS panel Integrated Genetics Westborough LabCorp United States	115	142	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Citrullinemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	2	C Sequence analysis of the entire coding region
Invitae Elevated Citrulline (Citrullinemia) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Citrullinemia type 1/ Argininosuccinate synthetase 1 deficiency (ASS1) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands	1	1	A Analyte C Sequence analysis of the entire coding region
Organic Acids, Comprehensive, Quantitative, Urine Quest Diagnostics Nichols Institute San Juan Capistrano United States	38	54	A Analyte
Amino Acid Analysis, Plasma Quest Diagnostics Nichols Institute San Juan Capistrano United States	19	17	A Analyte
Amino Acid Analysis, LC/MS, Urine Quest Diagnostics Nichols Institute San Juan Capistrano United States	8	10	A Analyte
Citrullinemia Type 1: ASS1 Sequencing Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AMINO ACIDS, PLASMA Genetics Laboratory Dayton Children's Hospital United States	8	7	A Analyte

Results: 1 to 18 of 18

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.

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Results: 1 to 18 of 18

Results: 1 to 18 of 18