Clinical and research tests for C2749675 - 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
B-Negative Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	73	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	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
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
AHDC1 Single Gene Fulgent Genetics United States	22	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
QARS Single Gene Fulgent Genetics United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TUBB2A Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PLK4 Single Gene Fulgent Genetics United States	39	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRKDC Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KATNB1 Single Gene Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CLP1 Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DCHS1 Single Gene Fulgent Genetics United States	49	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CDK6 Single Gene Fulgent Genetics United States	4	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
Clinical Exome Fulgent Genetics United States	5127	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
Microcephaly NGS Panel Fulgent Genetics United States	322	75	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.