Clinical and research tests for C0795690 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
B-Negative Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	73	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gastrointestinal Atresia NGS Panel Fulgent Genetics United States	27	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
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States	188	15	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
WDR60 Single Gene Fulgent Genetics United States	56	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WDR34 Single Gene Fulgent Genetics United States	57	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TTC7A Single Gene Fulgent Genetics United States	14	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
BHLHA9 Single Gene Fulgent Genetics United States	31	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DACT1 Single Gene Fulgent Genetics United States	6	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
180K CGH+SNP microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	231	1	D Deletion/duplication analysis H Detection of homozygosity
Clinical Exome Fulgent Genetics United States	5133	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.