Clinical and research tests for 1302 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 208

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Stickler Syndrome Panel Invitae United States	32	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fibrochondrogenesis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fibrochondrogenesis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft lip, cleft palate and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fibrochondrogenesis NGS panel HNL Genomics Connective Tissue Gene Tests United States	2	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft lip, cleft palate and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft lip, cleft palate and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fibrochondrogenesis 2, 614524, Autosomal recessive, Autosomal dominant (Fibrochondrogenesis) (COL11A2 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
Fibrochondrogenesis 2, 614524, Autosomal recessive, Autosomal dominant (Fibrochondrogenesis) (COL11A2 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
Stickler syndrome, type III, 184840, Autosomal dominant (Stickler syndrome type 3) (COL11A2 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
Stickler syndrome, type III, 184840, Autosomal dominant (Stickler syndrome type 3) (COL11A2 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
Otospondylomegaepiphyseal dysplasia, 215150, Autosomal recessive; OSMED (Otospondylomegaepiphyseal dysplasia) (COL11A2 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
Otospondylomegaepiphyseal dysplasia, 215150, Autosomal recessive; OSMED (Otospondylomegaepiphyseal dysplasia) (COL11A2 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
Deafness, autosomal dominant 13, 601868, Autosomal dominant (Autosomal dominant non-syndromic sensorineural deafness type DFNA) (COL11A2 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
Deafness, autosomal recessive 53, 609706, Autosomal recessive (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (COL11A2 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
Stickler22qZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	33	10	C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	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.