Clinical and research tests for C0085110 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 38 of 38

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 300 PLUS Panel Integrated Genetics Westborough LabCorp United States	172	350	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	19	18	C Sequence analysis of the entire coding region
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
Severe Combined Immunodeficiency Panel Blueprint Genetics Finland	1	79	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Immunodeficiency Panel Blueprint Genetics Finland	2	275	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
PRKDC Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ADA Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
STIM1 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
ADA Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Severe Combined Immunodeficiency Revvity Omics Revvity United States	1	1	T Targeted variant analysis

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Results: 21 to 38 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.