Clinical and research tests for C0343068 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 21

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cryopyrinopathies Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute United States	3	1	X Mutation scanning of select exons
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
HLH Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel PreventionGenetics, part of Exact Sciences United States	28	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CIAS1 Gene Mutations Duzen Laboratories Duzen BBAGUAS Turkey	3	1	C Sequence analysis of the entire coding region
Periodic Fever Syndromes Panel (7 genes) GeneDx United States	10	7	C Sequence analysis of the entire coding region
Neonatal Onset Multisystem Inflammatory Disease (NLRP3 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Muckle-Wells Syndrome (NLRP3 Single Gene Test) Fulgent Genetics United States	3	1	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
Periodic Fever/Autoinflammatory Disorders NGS Panel Fulgent Genetics United States	68	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PERIODIC FEVER Laboratorio de Genetica Clinica SL Spain	8	11	C Sequence analysis of the entire coding region
NLRC4 Single Gene Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NLRP3 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Periodic Fever NGS and Deletion/Duplication Panel DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	18	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NLRP3 Single Gene Fulgent Genetics United States	3	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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 21

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.