Clinical and research tests for C0027498 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	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
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RPS20 Single Gene Fulgent Genetics United States	20	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SEMA3D Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RNF6 Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WWOX Single Gene Fulgent Genetics United States	43	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KIAA0319L Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LRRFIP2 Single Gene Fulgent Genetics United States	21	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MALT1 Single Gene Fulgent Genetics United States	21	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BIRC3 Single Gene Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NRTN Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CTGF Single Gene Fulgent Genetics United States	26	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DLEC1 Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EWSR1 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CCR6 Single Gene Fulgent Genetics United States	26	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal / Urinary Cancer Comprehensive Panel Fulgent Genetics United States	543	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Paraganglioma-Pheochromocytoma Comprehensive Panel Fulgent Genetics United States	259	11	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.