Clinical and research tests for C3553617 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Dyskeratosis Congenita NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	18	14	C Sequence analysis of the entire coding region
Telomere-Related Pulmonary Fibrosis NGS Panel Fulgent Genetics United States	7	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	330	90	D Deletion/duplication analysis 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
Comprehensive Pulmonary NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	123	124	C Sequence analysis of the entire coding region
Comprehensive Pulmonary-Vascular Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	100	86	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Respiratory Distress Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	32	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hematologic Malignancy Comprehensive Panel Fulgent Genetics United States	39	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Idiopathic pulmonary fibrosis type 1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
TERT Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
TERT Single Gene Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TERT Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Lung Disorders NGS Panel Fulgent Genetics United States	76	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyskeratosis Congenita NGS Panel Fulgent Genetics United States	14	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 41 to 58 of 58

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.