Clinical and research tests for C1839454 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CFP - 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
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Complement Deficiency Disorders Panel Invitae United States	35	22	D Deletion/duplication analysis
Properdin deficiency, X-linked, 312060, X-linked recessive; CFPD (Properdin deficiency) (CFP 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
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
CFP - Properdin deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	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
Plugin system clutter panel. NGS panel of 75 genes. Genologica Medica Spain	76	75	C Sequence analysis of the entire coding region
CFP Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Complement Deficiency panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	28	33	C Sequence analysis of the entire coding region
Comprehensive Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States	58	37	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
PROPERDIN DEFICIENCY Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain	12	12	C Sequence analysis of the entire coding region
X-Linked Properdin Deficiency , Sequencing CFP Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Complement deficiencies Panel CeGaT GmbH Germany	8	34	C Sequence analysis of the entire coding region
CFP Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.