Clinical and research tests for C0023234 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia (MED) Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia (MED) NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL2A1-Related Disorders via the COL2A1 Gene PreventionGenetics, part of Exact Sciences United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	10	1	T Targeted variant analysis
COL2A1 Sequence Analysis Baylor Genetics United States	10	1	C Sequence analysis of the entire coding region
COL2A1 Deletion/Duplication Analysis Baylor Genetics United States	10	1	D Deletion/duplication analysis
COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis) Baylor Genetics United States	10	1	D Deletion/duplication analysis
COL2A1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	10	1	T Targeted variant analysis
Stickler Syndrome Panel PreventionGenetics, part of Exact Sciences United States	30	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple Epiphyseal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	29	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Stickler Syndrome Gene Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	39	13	C Sequence analysis of the entire coding region
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
Cataract panel. NGS panel of 69 genes. Genologica Medica Spain	146	69	C Sequence analysis of the entire coding region
Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel. Genologica Medica Spain	69	28	C Sequence analysis of the entire coding region
Marfan syndrome panel. 30-gene NGS panel. Genologica Medica Spain	71	30	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 76

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.