Clinical and research tests for C2751052 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	115	136	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	115	136	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
FKTN - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FKTN - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	165	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Ashkenazi Jewish Panel Ambry Genetics United States	51	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Brain Malformations Panel Invitae United States	247	161	D Deletion/duplication analysis
Limb girdle muscular dystrophy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Limb girdle muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	35	C Sequence analysis of the entire coding region T Targeted variant analysis
Limb girdle muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152, Autosomal recessive; MDDGB4 (Congenital muscular dystrophy without intellectual disability) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152, Autosomal recessive; MDDGB4 (Congenital muscular dystrophy without intellectual disability) (FKTN gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152, Autosomal recessive; MDDGB4 (Congenital muscular dystrophy without intellectual disability) (FKTN gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152, Autosomal recessive; MDDGB4 (Congenital muscular dystrophy without intellectual disability) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Brain Malformation Panel PreventionGenetics United States	77	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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