Clinical and research tests for C0016037 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ACVR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fibrodysplasia ossificans progressiva, 135100, Autosomal dominant; FOP (Fibrodysplasia ossificans progressiva) (ACVR1 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
Fibrodysplasia ossificans progressiva, 135100, Autosomal dominant; FOP (Fibrodysplasia ossificans progressiva) (ACVR1 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
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
Fibrodysplasia ossificans progressiva 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
Fibrodysplasia ossificans progressiva 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
Fibrodysplasia ossificans progressiva NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	78	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fibrodysplasia Ossificans progressiva (FOP) via the ACVR1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain	113	62	C Sequence analysis of the entire coding region
Fibrodysplasia Ossificans Progressiva (ACVR1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes Reference Laboratory Genetics Spain	42	39	C Sequence analysis of the entire coding region
Optic Atrophy & Early Glaucoma NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	40	34	C Sequence analysis of the entire coding region
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Laboratorio de Genetica Clinica SL Spain	1	1	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Progressive Ossificans Fibrodysplasia, Sequencing ACVR1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Glaucoma Asper Biogene Asper Biogene LLC Estonia	19	20	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.