Clinical and research tests for 155760 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Spondyloepiphyseal dysplasia, Kimberley type, 608361, Autosomal dominant; SEDK (Spondyloepiphyseal dysplasia, Kimberley type) (ACAN 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
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (Spondyloepimetaphyseal dysplasia, aggrecan type) (ACAN 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
Spondyloepiphyseal dysplasia, Kimberley type, 608361, Autosomal dominant; SEDK (Spondyloepiphyseal dysplasia, Kimberley type) (ACAN 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
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (Spondyloepimetaphyseal dysplasia, aggrecan type) (ACAN 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
Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800, Autosomal dominant; OD (Familial osteochondritis dissecans) (ACAN 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
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States	79	54	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Short Stature Panel Mendelics Brazil	1	67	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
SHORT STATURE EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	152	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel. Genologica Medica Spain	69	28	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Spondyloepiphyseal dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons 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.