Clinical and research tests for 120160 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 219

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	C Sequence analysis of the entire coding region T Targeted variant analysis
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	110	50	C Sequence analysis of the entire coding region
Osteogenesis imperfecta, type IV, 166220, Autosomal dominant; OI4 (Osteogenesis imperfecta) (COL1A2 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
Osteoporosis, postmenopausal, 166710, Autosomal dominant (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteogenesis imperfecta, type III, 259420, Autosomal dominant; OI3 (Osteogenesis imperfecta) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteogenesis imperfecta, type II, 166210, Autosomal dominant; OI2 (Osteogenesis imperfecta) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteogenesis imperfecta, type II, 166210, Autosomal dominant; OI2 (Osteogenesis imperfecta) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteogenesis imperfecta, type II, 166210, Autosomal dominant; OI2 (Osteogenesis imperfecta) (COL1A2 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
Osteogenesis imperfecta, type IV, 166220, Autosomal dominant; OI4 (Osteogenesis imperfecta) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteogenesis imperfecta, type III, 259420, Autosomal dominant; OI3 (Osteogenesis imperfecta) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteoporosis, postmenopausal, 166710, Autosomal dominant (COL1A2 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
Osteogenesis imperfecta, type II, 166210, Autosomal dominant; OI2 (Osteogenesis imperfecta) (COL1A2 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
Osteogenesis imperfecta, type III, 259420, Autosomal dominant; OI3 (Osteogenesis imperfecta) (COL1A2 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
Osteogenesis imperfecta, type III, 259420, Autosomal dominant; OI3 (Osteogenesis imperfecta) (COL1A2 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
Osteogenesis imperfecta, type IV, 166220, Autosomal dominant; OI4 (Osteogenesis imperfecta) (COL1A2 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
Osteogenesis imperfecta, type IV, 166220, Autosomal dominant; OI4 (Osteogenesis imperfecta) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Ehlers-Danlos syndrome, cardiac valvular form, 225320, Autosomal recessive (Ehlers-Danlos syndrome, cardiac valvular type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Ehlers-Danlos syndrome, cardiac valvular form, 225320, Autosomal recessive (Ehlers-Danlos syndrome, cardiac valvular type) (COL1A2 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

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Results: 21 to 40 of 219

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.