Clinical and research tests for C5561926 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SFTPA2 - 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 Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Telomere Biology Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	21	13	D Deletion/duplication analysis
Invitae Surfactant Metabolism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	40	19	D Deletion/duplication analysis
Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	83	46	D Deletion/duplication analysis
Invitae Phagocytic Disorders Including Neutropenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neonatal Respiratory Distress Panel Labcorp Genetics (formerly Invitae) LabCorp United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary fibrosis, idiopathic, susceptibility to, 178500, Autosomal dominant; IPF (Idiopathic pulmonary fibrosis) (SFTPA1 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
Pulmonary fibrosis, idiopathic, susceptibility to, 178500, Autosomal dominant (Idiopathic pulmonary fibrosis) (MUC5B 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
Pulmonary fibrosis, idiopathic, 178500, Autosomal dominant; IPF (Idiopathic pulmonary fibrosis) (SFTPA2 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
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis 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
Pulmonary Fibrosis Syndrome via the SFTPA2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Invitae Hereditary Myelodysplastic Syndrome/Leukemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	76	32	D Deletion/duplication analysis
Invitae Bone Marrow Failure Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	137	85	D Deletion/duplication analysis
Telomere Biology Disorder/Dyskeratosis Congenita Panel Genetic Services Laboratory University of Chicago United States	5	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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