Clinical and research tests for C0541764 - 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
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
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
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	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
RIT1 Single Gene Fulgent Genetics United States	65	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPRY4 Single Gene Fulgent Genetics United States	38	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPRTN Single Gene Fulgent Genetics United States	19	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
TRH Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PIGT Single Gene Fulgent Genetics United States	43	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HS6ST1 Single Gene Fulgent Genetics United States	41	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
INPPL1 Single Gene Fulgent Genetics United States	50	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KMT2A Single Gene Fulgent Genetics United States	37	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IL17RD Single Gene Fulgent Genetics United States	44	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LONP1 Single Gene Fulgent Genetics United States	54	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MALT1 Single Gene Fulgent Genetics United States	21	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 1 to 20 of 38

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.