Clinical and research tests for C0747085 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Antibody Deficiency NGS Panel Fulgent Genetics United States	102	37	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
Primary Ciliary Dyskinesia NGS Panel Fulgent Genetics United States	55	38	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
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ZMYND10 Single Gene Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HYDIN Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
JAGN1 Single Gene Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HYAL1 Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LRBA Single Gene Fulgent Genetics United States	45	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ARMC4 Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PCYT1A Single Gene Fulgent Genetics United States	34	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DNAAF5 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DRC1 Single Gene Fulgent Genetics United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CCDC114 Single Gene Fulgent Genetics United States	12	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.