Clinical and research tests for C1868081 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Panel Comprehensive Molecular Genetics Laboratory London Health Sciences Centre Canada	39	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
OnkoRisk Hereditary Oncology Plus Panel BioReference Health United States	97	77	C Sequence analysis of the entire coding region
OnkoRisk Hereditary Oncology Management Panel BioReference Health United States	47	17	C Sequence analysis of the entire coding region
PREVENTEST GeneID Lab - Advanced Molecular Diagnostics United States	60	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ColoGene GeneID Lab - Advanced Molecular Diagnostics United States	41	19	C Sequence analysis of the entire coding region
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Juvenile polyposis syndrome, infantile form, 174900, Autosomal dominant; JPS (Juvenile polyposis syndrome) (BMPR1A 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
Polyposis, juvenile intestinal, 174900, Autosomal dominant (Juvenile polyposis syndrome) (SMAD4 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
Polyposis, juvenile intestinal, 174900, Autosomal dominant (Juvenile polyposis syndrome) (BMPR1A 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
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pediatric Cancer Panel PreventionGenetics, part of Exact Sciences United States	78	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel Invitae United States	11	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Aortopathy Comprehensive Panel Invitae United States	60	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Gastric Cancer Panel Genetic Services Laboratory University of Chicago United States	10	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Juvenile Polyposis Syndrome (JPS) via the BMPR1A 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
Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain	158	71	C Sequence analysis of the entire coding region
Vascular malformations panel. 14-gene NGS panel. Genologica Medica Spain	38	14	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

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