Clinical and research tests for C1844376 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
CYBB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Diarrhea Panel Invitae United States	121	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mendelian Susceptibility to Mycobacterial Disease Panel PreventionGenetics United States	29	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chronic granulomatous disease, X-linked, 306400, X-linked recessive (Chronic granulomatous disease) (CYBB 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
Chronic granulomatous disease, X-linked, 306400, X-linked recessive (Chronic granulomatous disease) (CYBB 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
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX (Chronic granulomatous disease) (CYBB 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
Congenital Diarrhea and Enteropathies Panel PreventionGenetics United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Chronic Granulomatous Disease (CGD): CYBB (Full Gene Sequencing) Molecular Diagnostic Laboratory LabCorp United States	1	1	C Sequence analysis of the entire coding region
Chronic Granulomatous Disease Panel PreventionGenetics United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chronic Granulomatous Disease via the CYBB Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chronic Granulomatous Disease - CYBB Sequencing Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado United States	2	1	C Sequence analysis of the entire coding region
Chronic granulomatous disease (CGD), X-linked Department of Clinical Immunology Odense University Hospital Denmark	1	1	C Sequence analysis of the entire coding region
Chronic granulomatous disease panel. 7-gene NGS panel. Genologica Medica Spain	12	7	C Sequence analysis of the entire coding region
Horizon 137 Male Natera, Inc. United States	130	133	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 274 Plus TSE Natera, Inc. United States	265	275	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis

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