Clinical and research tests for C0410174 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 170

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Walker-Warburg Syndrome Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	1	T Targeted variant analysis
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800, Autosomal recessive; MDDGA4 (Muscle-eye-brain disease) (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 with brain and eye anomalies), type A, 4, 253800, Autosomal recessive; MDDGA4 (Muscle-eye-brain disease) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800, Autosomal recessive; MDDGA4 (Muscle-eye-brain disease) (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 with brain and eye anomalies), type A, 4, 253800, Autosomal recessive; MDDGA4 (Muscle-eye-brain disease) (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	482	254	C Sequence analysis of the entire coding region
FKTN-Related Disorders Myriad Genetics, Inc. United States	4	1	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
Lissencephaly and related disorders Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly and related disorders Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	46	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lissencephaly and related disorders NGS test HNL Genomics Connective Tissue Gene Tests United States	46	42	C Sequence analysis of the entire coding region T Targeted variant analysis
DCMNext® Ambry Genetics United States	101	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	237	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CMNext® Ambry Genetics United States	139	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CardioNext® Ambry Genetics United States	190	92	D Deletion/duplication analysis 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.