Clinical and research tests for C0476403 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy NGS Panel Fulgent Genetics United States	450	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Cortical Malformation NGS Panel Fulgent Genetics United States	210	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ADCY6 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SMCHD1 Single Gene Fulgent Genetics United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TXNRD2 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRDM16 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PNPLA8 Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL12A1 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CNTNAP1 Single Gene Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FHL2 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GMPPB Single Gene Fulgent Genetics United States	49	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dilated Cardiomyopathy NGS Panel Fulgent Genetics United States	182	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome NGS Panel Fulgent Genetics United States	97	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Type VI Collagenopathy NGS Panel Fulgent Genetics United States	20	4	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
Left Ventricular Non-Compaction Cardiomyopathy NGS Panel Fulgent Genetics United States	82	24	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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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.