Clinical and research tests for C0034341 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 86

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hypoglycemia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pyruvate carboxylase deficiency, 266150, Autosomal recessive (Pyruvate carboxylase deficiency, benign type) (PC gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Pyruvate carboxylase deficiency, 266150, Autosomal recessive (Pyruvate carboxylase deficiency, benign type) (PC gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Invitae Hyperammonemia Panel Invitae United States	75	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pyruvate Carboxylase Deficiency Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
PC - Pyruvate carboxylase deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Metabolic Hypoglycemia Panel PreventionGenetics, part of Exact Sciences United States	38	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pyruvate Carboxylase Deficiency via the PC Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Glycogen Storage Disease and Disorders of Glucose Metabolism Panel PreventionGenetics, part of Exact Sciences United States	33	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PC Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis
PC Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PC Sequence Analysis Baylor Genetics United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
PC Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	3	1	T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
ALDOB, FBP1,GYS2 & PC Sequence Analysis Baylor Genetics United States	6	4	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 86

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.