Clinical and research tests for C2676285 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysyl hydroxylase 3 deficiency, 612394, Autosomal recessive (Connective tissue disorder due to lysyl hydroxylase-3 deficiency) (PLOD3 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
Lysyl hydroxylase 3 deficiency, 612394, Autosomal recessive (Connective tissue disorder due to lysyl hydroxylase-3 deficiency) (PLOD3 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
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region 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
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
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Connective tissue / Aortopathies panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	35	35	C Sequence analysis of the entire coding region
Congenital Contractures NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	57	C Sequence analysis of the entire coding region
Connective Tissue Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	44	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	15	22	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
NGS panel - Ehlers-Danlos syndromes and related disorders Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	14	22	D Deletion/duplication analysis T Targeted variant analysis
NGS panel - Ehlers-Danlos syndromes (Ehlers-Danlos type IV - vascular type - excluded) + FN1 Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	13	23	D Deletion/duplication analysis T Targeted variant analysis
Osteogenesis Imperfecta and Genetic Bone Disorders Panel Collagen Diagnostic Laboratory University Of Washington United States	27	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PLOD3 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	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.