Clinical and research tests for 4038 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 88

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cenani-Lenz syndactyly syndrome, 212780, Autosomal recessive; CLSS (Cenani-Lenz syndrome) (LRP4 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
Cenani-Lenz syndactyly syndrome, 212780, Autosomal recessive; CLSS (Cenani-Lenz syndrome) (LRP4 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
Myasthenic syndrome, congenital, 17, 616304, Autosomal recessive; CMS17 (Congenital myasthenic syndrome) (LRP4 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
Myasthenic syndrome, congenital, 17, 616304, Autosomal recessive; CMS17 (Congenital myasthenic syndrome) (LRP4 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
Sclerosteosis 2, 614305, Autosomal recessive, Autosomal dominant; SOST2 (Sclerosteosis) (LRP4 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	103	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region

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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.