Clinical and research tests for C2677877 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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, 4, 300770; SMDP4 (Hereditary pulmonary alveolar proteinosis) (CSF2RA 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
Surfactant metabolism dysfunction, pulmonary, 4, 300770; SMDP4 (Hereditary pulmonary alveolar proteinosis) (CSF2RA 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
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Interstitial lung disease panel. 25-gene NGS panel. Genologica Medica Spain	40	25	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	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
Congenital neutropenia panel. NGS panel of 26 genes. Genologica Medica Spain	35	25	C Sequence analysis of the entire coding region
Comprehensive lung panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	64	66	C Sequence analysis of the entire coding region
Neonatal Respiratory Distress panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	16	16	C Sequence analysis of the entire coding region
Sufactant metabolism dysfunction, pulmonary: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Pulmonary Surfactant Metabolism Dysfunction and Related Disorders, Panel Massive Sequencing (NGS) 6 Genes Reference Laboratory Genetics Spain	6	6	C Sequence analysis of the entire coding region
Familial Pulmonary Fibrosis and Pulmonary Surfactant Metabolism Dysfunction , Panel Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain	8	9	C Sequence analysis of the entire coding region
Surfactant Dysfunction & Respiratory Distress in Premature Infants NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	12	11	C Sequence analysis of the entire coding region
Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	36	40	C Sequence analysis of the entire coding region

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