Clinical and research tests for C1868193 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OnkoRisk Hereditary Oncology Plus Panel BioReference Health United States	97	77	C Sequence analysis of the entire coding region
Birt-Hogg-Dube syndrome Molecular Genetics Laboratory North York General Hospital Canada	3	1	C Sequence analysis of the entire coding region
FLCN - 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
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	195	92	D Deletion/duplication analysis
Invitae Multi-Cancer + RNA Panel Labcorp Genetics (formerly Invitae) LabCorp United States	142	63	D Deletion/duplication analysis
Pneumothorax, primary spontaneous, 173600, Autosomal dominant (Familial spontaneous pneumothorax) (FLCN 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
Pneumothorax, primary spontaneous, 173600, Autosomal dominant (Familial spontaneous pneumothorax) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Labcorp Genetics (formerly Invitae) LabCorp United States	160	62	D Deletion/duplication 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
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	171	137	C Sequence analysis of the entire coding region
Connective tissue disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States	37	47	C Sequence analysis of the entire coding region T Targeted variant analysis
Connective tissue disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	37	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective tissue disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	37	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pneumothorax, primary spontaneous NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Pneumothorax, primary spontaneous 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
Pneumothorax, primary spontaneous 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
FLCN gene sequence and deletion/duplication Ambry Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cancer Panel PreventionGenetics, part of Exact Sciences United States	122	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Birt-Hogg-Dube Syndrome via the FLCN Gene PreventionGenetics, part of Exact Sciences United States	3	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.