Clinical and research tests for C1845847 - 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
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	505	132	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
Winchester Syndrome (MMP14 Single Gene Test) Fulgent Genetics United States	23	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
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coffin-Siris Syndrome NGS Panel Fulgent Genetics United States	82	11	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
SOX11 Single Gene Fulgent Genetics United States	69	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC35A2 Single Gene Fulgent Genetics United States	19	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TBC1D7 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SNX14 Single Gene Fulgent Genetics United States	35	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TRHR Single Gene Fulgent Genetics United States	11	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
ATP6V1B2 Single Gene Fulgent Genetics United States	51	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MMP14 Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAR1 Single Gene Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAM120AOS Single Gene Fulgent Genetics United States	9	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.