Clinical and research tests for C1970456 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
ABCA3 - 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
Pulmonary Panel Centogene AG - the Rare Disease Company Germany	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Surfactant Metabolism Panel Invitae United States	40	19	D Deletion/duplication analysis
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Respiratory Distress Panel PreventionGenetics United States	7	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Surfactant Deficiency via the ABCA3 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Interstitial Lung Disease Panel PreventionGenetics United States	26	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel PreventionGenetics United States	8	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Pulmonary-Vascular Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	100	86	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Respiratory Distress Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	32	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Surfactant metabolism dysfunction, pulmonary, type 3 Bioarray Spain	1	1	D Deletion/duplication analysis
ABCA3 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Surfactant NGS Panel Fulgent Genetics United States	7	5	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
Lung Disorders NGS Panel Fulgent Genetics United States	76	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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