Clinical and research tests for C1866079 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Cystic Kidney Disease Panel Invitae United States	96	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	50	C Sequence analysis of the entire coding region
Osteopetrosis, autosomal dominant 1, 607634, Autosomal dominant; OPTA1 (Autosomal dominant osteopetrosis type 1) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteopetrosis, autosomal dominant 1, 607634, Autosomal dominant; OPTA1 (Autosomal dominant osteopetrosis type 1) (LRP5 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
[Bone mineral density variability 1], 601884, Autosomal dominant (Autosomal dominant osteosclerosis, Worth type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
[Bone mineral density variability 1], 601884, Autosomal dominant (Autosomal dominant osteosclerosis, Worth type) (LRP5 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
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
LRP5 Institute for Human Genetics University Medical Center Freiburg Germany	7	1	C Sequence analysis of the entire coding region
Osteogenesis imperfecta panel. 28-gene NGS panel. Genologica Medica Spain	48	27	C Sequence analysis of the entire coding region
Polycystic kidney disease panel. NGS panel of 10 genes. Genologica Medica Spain	17	10	C Sequence analysis of the entire coding region
Polycystic liver disease panel. 6-gene NGS panel. Genologica Medica Spain	11	6	C Sequence analysis of the entire coding region
Osteoporosis and bone dysplasia panel. 25-gene NGS panel. Genologica Medica Spain	56	25	C Sequence analysis of the entire coding region

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