Clinical and research tests for C0700078 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
STAC3 Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TBK1 Single Gene Fulgent Genetics United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SZT2 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SNX14 Single Gene Fulgent Genetics United States	35	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
PNPT1 Single Gene Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POMK Single Gene Fulgent Genetics United States	56	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IARS2 Single Gene Fulgent Genetics United States	19	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MGME1 Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BICD2 Single Gene Fulgent Genetics United States	20	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COX6A1 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COASY Single Gene Fulgent Genetics United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DCAF8 Single Gene Fulgent Genetics United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GNB4 Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot Marie Tooth Disease Extended NGS Panel Fulgent Genetics United States	172	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome NGS Panel Fulgent Genetics United States	105	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
mtDNA Depletion Syndrome NGS Panel Fulgent Genetics United States	86	16	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
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 43

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.