Clinical and research tests for C1839739 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Schwannomatosis NGS Panel Fulgent Genetics United States	85	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	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
Noonan and RASopathies NGS Panel Fulgent Genetics United States	235	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Winchester Syndrome (MMP14 Single Gene Test) Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	379	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coffin-Siris Syndrome NGS Panel Fulgent Genetics United States	82	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
A2ML1 Single Gene Fulgent Genetics United States	49	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASA2 Single Gene Fulgent Genetics United States	48	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RPS29 Single Gene Fulgent Genetics United States	15	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RIT1 Single Gene Fulgent Genetics United States	65	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RPL26 Single Gene Fulgent Genetics United States	24	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SOX11 Single Gene Fulgent Genetics United States	69	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SOS2 Single Gene Fulgent Genetics United States	56	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ZBTB20 Single Gene Fulgent Genetics United States	64	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TRAF6 Single Gene Fulgent Genetics United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KCNH1 Single Gene Fulgent Genetics United States	75	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ATP6V1B2 Single Gene Fulgent Genetics United States	51	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LZTR1 Single Gene Fulgent Genetics United States	57	1	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.