Clinical and research tests for C1866195 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHOPS Syndrome (AFF4 Single Gene Test) Fulgent Genetics United States	27	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	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
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Robinow Syndrome NGS Panel Fulgent Genetics United States	76	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AFF4 Single Gene Fulgent Genetics United States	27	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
STAC3 Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KAT6A Single Gene Fulgent Genetics United States	26	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
HNRNPK Single Gene Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PCLO Single Gene Fulgent Genetics United States	28	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
DSE Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DVL1 Single Gene Fulgent Genetics United States	70	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ERF Single Gene Fulgent Genetics United States	34	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAT4 Single Gene Fulgent Genetics United States	91	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome NGS Panel Fulgent Genetics United States	97	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	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.