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

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Results: 21 to 40 of 109

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebellar ataxia, 604290, Autosomal recessive (Aceruloplasminemia) (CP 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
Cerebellar ataxia, 604290, Autosomal recessive (Aceruloplasminemia) (CP 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
Hemosiderosis, systemic, due to aceruloplasminemia, 604290, Autosomal recessive (Aceruloplasminemia) (CP 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
[Hypoceruloplasminemia, hereditary], 604290, Autosomal recessive (Aceruloplasminemia) (CP 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
Disorders of Copper Metabolism Panel PreventionGenetics, part of Exact Sciences United States	9	6	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
WES iron disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	20	46	E Sequence analysis of select exons
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
panel microcytic anemia-due to iron disorder (SLC11A2, TMPRSS6, TF, CP) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	4	4	C Sequence analysis of the entire coding region
CP - hereditary hypoceruloplasminemia Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
panel hemochromatosis (CP, HFE, HFE2, HAMP, TFR2, SLC40A1, BMP6, FTL, IRE-FTH1) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	8	9	C Sequence analysis of the entire coding region
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Exome Genetic Services Laboratory University of Chicago United States	288	480	C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Copper Metabolism Disorders Panel Invitae United States	15	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystonia Exome Genetic Services Laboratory University of Chicago United States	93	170	C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Panel PreventionGenetics, part of Exact Sciences United States	18	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Aceruloplasminemia via the CP 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

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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.