Clinical and research tests for C0205710 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 145

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	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
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700, Autosomal recessive; MTDPS4A (Alpers-Huttenlocher syndrome) (POLG 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 DNA depletion syndrome 4A (Alpers type), 203700, Autosomal recessive; MTDPS4A (Alpers-Huttenlocher syndrome) (POLG 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 DNA depletion syndrome 4A (Alpers type), 203700, Autosomal recessive; MTDPS4A (Alpers-Huttenlocher syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700, Autosomal recessive; MTDPS4A (Alpers-Huttenlocher syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	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
POLG - Mitochondrial DNA depletion syndrome Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	5	1	C Sequence analysis of the entire coding region
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel PreventionGenetics, part of Exact Sciences United States	30	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leigh and Leigh-Like Syndrome Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	41	63	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Invitae Comprehensive Glycogen Storage Disease Panel Invitae United States	37	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.