Clinical and research tests for C1833736 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OI and Bone Fragility Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ANO5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	50	C Sequence analysis of the entire coding region
Gnathodiaphyseal dysplasia, 166260, Autosomal dominant; GDD (Gnathodiaphyseal dysplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Gnathodiaphyseal dysplasia, 166260, Autosomal dominant; GDD (Gnathodiaphyseal dysplasia) (ANO5 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
Gnathodiaphyseal dysplasia, 166260, Autosomal dominant; GDD (Gnathodiaphyseal dysplasia) (ANO5 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
Gnathodiaphyseal dysplasia, 166260, Autosomal dominant; GDD (Gnathodiaphyseal dysplasia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center 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
Osteogenesis imperfecta NGS panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	30	24	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta NGS panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	9	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta Deletion / Duplication panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	9	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	30	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteogenesis imperfecta Comprehensive panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	9	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	30	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
Invitae Comprehensive Muscular Dystrophy Panel Invitae United States	114	52	D Deletion/duplication analysis
Invitae Limb-Girdle Muscular Dystrophy Panel Invitae United States	91	37	D Deletion/duplication analysis
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication 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.