Clinical and research tests for C0796081 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Aortic diseases Panel Health in Code Spain	71	35	C Sequence analysis of the entire coding region
Aortic Valvular Diseases Panel Health in Code Spain	60	30	C Sequence analysis of the entire coding region
Common Hereditary Cancer Screening Panel PreventionGenetics, part of Exact Sciences United States	94	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SMAD4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gastric Cancer Panel PreventionGenetics, part of Exact Sciences United States	36	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CancerNext® 37 Ambry Genetics United States	79	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CancerNext® 37 (+RNAinsight®) Ambry Genetics United States	79	18	D Deletion/duplication analysis R RNA analysis 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
Variant Resolution Test for Penn Cancer Grant Panel (+RNAinsight®) Ambry Genetics United States	79	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Penn Cancer Grant Panel Ambry Genetics United States	79	80	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Myhre syndrome, 139210, Autosomal dominant (Myhre 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
Myhre syndrome, 139210, Autosomal dominant (Myhre syndrome) (SMAD4 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
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	147	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for ColoNext® (+RNAinsight®) Ambry Genetics United States	48	10	D Deletion/duplication analysis R RNA analysis 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
Myhre syndrome Sequencing test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Myhre syndrome 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
Myhre syndrome 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

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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.