Clinical and research tests for C1837317 - 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	117	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	117	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pan Cardiomyopathy Panel (62 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	101	61	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
CRYAB - 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
CRYAB - 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
Myofibrillar myopathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myopathy, myofibrillar, 2, 608810, Autosomal dominant; MFM2 (Early-onset lamellar cataract) (CRYAB gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Myopathy, myofibrillar, 2, 608810, Autosomal dominant; MFM2 (Early-onset lamellar cataract) (CRYAB gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	482	254	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
Myofibrillar myopathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myofibrillar myopathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics United States	220	196	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics United States	184	142	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.