Clinical and research tests for C2749757 - Genetic Testing Registry (GTR) - NCBI

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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
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CFTR - MLPA Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis
CFTR - 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
SCNN1B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Renal Tubular Disorders Panel Invitae United States	68	39	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bronchiectasis with or without elevated sweat chloride 1, modifier of, 211400, Autosomal dominant; BESC1 (Idiopathic bronchiectasis) (CFTR 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
Bronchiectasis with or without elevated sweat chloride 3, 613071, Autosomal dominant; BESC3 (Idiopathic bronchiectasis) (SCNN1G 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
Bronchiectasis with or without elevated sweat chloride 1, 211400, Autosomal dominant (Idiopathic bronchiectasis) (SCNN1B 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
Bronchiectasis with or without elevated sweat chloride 1, modifier of, 211400, Autosomal dominant; BESC1 (Idiopathic bronchiectasis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
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 Comprehensive Carrier Screen without X-Linked Disorders Invitae United States	8	2	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

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