Clinical and research tests for C5700310 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 105

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MITOCHONDRIAL COMPLEX II DEFICIENCY (Isolated succinate-CoQ reductase deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
MITOCHONDRIAL COMPLEX II DEFICIENCY (Isolated succinate-CoQ reductase deficiency) (SDHD 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
Mitochondrial complex II deficiency, 252011, Autosomal recessive (Isolated succinate-CoQ reductase deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Mitochondrial respiratory chain complex II deficiency, 252011, Autosomal recessive (Isolated succinate-CoQ reductase deficiency) (SDHA 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
Mitochondrial complex II deficiency, 252011, Autosomal recessive (Isolated succinate-CoQ reductase deficiency) (SDHAF1 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
Mitochondrial complex II deficiency, 252011, Autosomal recessive (Isolated succinate-CoQ reductase deficiency) (SDHD 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
Mitochondrial complex II deficiency, 252011, Autosomal recessive (Isolated succinate-CoQ reductase deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for RenalNext® (+RNAinsight®) Ambry Genetics United States	57	7	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for PGLNext® (+RNAinsight®) Ambry Genetics United States	26	1	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
SDHB -complex II deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
SDHA - complex II deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	3	1	C Sequence analysis of the entire coding region
SDHAF1 - Mitochondrial complex II deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
SDHD - Mitochondrial complex II 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
RenalNext® Ambry Genetics United States	57	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGLNext® Ambry Genetics United States	26	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	147	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 105

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.