Clinical and research tests for C0282527 AND 500105 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	356	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	277	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Refsum Disease NGS Panel Fulgent Genetics United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	718	337	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	638	300	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	663	308	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	692	328	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Focus Male Carrier Screening Panel Fulgent Genetics United States	47	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Focus Female Carrier Screening Panel Fulgent Genetics United States	53	30	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
PEX1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PEX12 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis NGS Panel Fulgent Genetics United States	121	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5130	4674	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
Zellweger Syndrome NGS Panel Fulgent Genetics United States	20	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinitis Pigmentosa NGS Panel Fulgent Genetics United States	329	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peroxisomal NGS Panel Fulgent Genetics United States	77	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular NGS Panel Fulgent Genetics United States	280	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Disorders NGS Panel Fulgent Genetics United States	186	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.