Clinical and research tests for C4759767 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Stickler Syndrome Panel Invitae United States	32	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Axial spondylometaphyseal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Axial spondylometaphyseal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Axial spondylometaphyseal dysplasia Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
SMED Strudwick type, 184250, autosomal dominant; SEMDSTWK (Spondyloepimetaphyseal dysplasia congenita, Strudwick type) (COL2A1 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
SMED Strudwick type, 184250, autosomal dominant; SEMDSTWK (Spondyloepimetaphyseal dysplasia congenita, Strudwick type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
SMED Strudwick type, 184250, autosomal dominant; SEMDSTWK (Spondyloepimetaphyseal dysplasia congenita, Strudwick type) (COL2A1 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
SMED Strudwick type, 184250, autosomal dominant; SEMDSTWK (Spondyloepimetaphyseal dysplasia congenita, Strudwick type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondyloepimetaphyseal dysplasia, Strudwick type NGS test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepiphyseal dysplasia congenita Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepiphyseal dysplasia congenita HNL Genomics Connective Tissue Gene Tests United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepiphyseal dysplasia congenita Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondyloepimetaphyseal dysplasia, Strudwick type HNL Genomics Connective Tissue Gene Tests United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	3	1	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.