Clinical and research tests for C0020757 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ichthyosis and Ectodermal Dysplasia Panel Mendelics Brazil	2	58	C Sequence analysis of the entire coding region
Ichthyosis NGS Panel Fulgent Genetics United States	98	43	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
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
ICHTHYOSIS FOLLICULARIS WITH ATRICHIA AND PHOTOPHOBIA SYNDROME Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
ICHTHYOSIS CONGENITA, AUTOSOMAL RECESSIVE Laboratorio de Genetica Clinica SL Spain	1	9	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
HS6ST1 Single Gene Fulgent Genetics United States	41	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
NRAS Single Gene Fulgent Genetics United States	178	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CYP4F22 Single Gene Fulgent Genetics United States	26	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DUSP6 Single Gene Fulgent Genetics United States	40	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGF17 Single Gene Fulgent Genetics United States	40	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FEZF1 Single Gene Fulgent Genetics United States	41	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FLRT3 Single Gene Fulgent Genetics United States	39	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CERS3 Single Gene Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nevus Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	26	28	C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy NGS Panel Fulgent Genetics United States	375	86	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 1 to 20 of 23

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.