Clinical and research tests for CSF2RB - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CSF2RB Gene Surfactant metabolism dysfunction type 5 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CSF2RB - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	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 Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Surfactant Metabolism Panel Invitae United States	40	19	D Deletion/duplication analysis
Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Surfactant metabolism dysfunction, pulmonary, 5, 614370, Autosomal recessive; SMDP5 (Hereditary pulmonary alveolar proteinosis) (CSF2RB 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
Surfactant metabolism dysfunction, pulmonary, 5, 614370, Autosomal recessive; SMDP5 (Hereditary pulmonary alveolar proteinosis) (CSF2RB 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
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	C Sequence analysis of the entire coding region
Interstitial Lung Disease Panel PreventionGenetics, part of Exact Sciences 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, part of Exact Sciences United States	8	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Lung Disorders Panel CGC Genetics Unilabs Portugal	1	107	C Sequence analysis of the entire coding region
Surfactant metabolism dysfunction type 5 (sequence analysis of CSF2RB gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Interstitial lung disease panel. 25-gene NGS panel. Genologica Medica Spain	40	25	C Sequence analysis of the entire coding region
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region

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