Clinical and research tests for C0266295 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PAX2 sequencing University of Minnesota Physicians Outreach Laboratory University of Minnesota United States	2	1	C Sequence analysis of the entire coding region
Burn-McKeown Syndrome (TXNL4A Single Gene Test) Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal Malformation NGS Panel Fulgent Genetics United States	43	15	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
Adams-Oliver Syndrome NGS Panel Fulgent Genetics United States	55	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Scalp-Ear-Nipple Syndrome (KCTD1 Single Gene Test) Fulgent Genetics United States	48	1	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
Kidney Dysplasia NGS Panel Fulgent Genetics United States	68	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cystic Disease and Nephronopthisis panel Clinical Genomics Laboratory Washington University in St. Louis United States	16	33	C Sequence analysis of the entire coding region
PUF60 Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TBX18 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TXNL4A Single Gene Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KCTD1 Single Gene Fulgent Genetics United States	48	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DLL4 Single Gene Fulgent Genetics United States	46	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
PDE6D Single Gene Fulgent Genetics United States	42	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DSTYK Single Gene Fulgent Genetics United States	4	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
CEP120 Single Gene Fulgent Genetics United States	43	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.