Clinical and research tests for C0024433 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Glomerular Proteinuria NGS Panel Fulgent Genetics United States	182	77	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset Ataxia NGS Panel Fulgent Genetics United States	507	135	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kaufman Oculocerebrofacial Syndrome (UBE3B Single Gene Test) Fulgent Genetics United States	52	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	535	152	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
RNF113A Single Gene Fulgent Genetics United States	19	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
ZMYND11 Single Gene Fulgent Genetics United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WDR73 Single Gene Fulgent Genetics United States	66	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
UBE3B Single Gene Fulgent Genetics United States	52	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HDAC6 Single Gene Fulgent Genetics United States	34	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
LARP7 Single Gene Fulgent Genetics United States	10	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
NALCN Single Gene Fulgent Genetics United States	51	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal / Urinary Cancer Comprehensive Panel Fulgent Genetics United States	543	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sarcoma Comprehensive Panel Fulgent Genetics United States	645	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	1166	141	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.