Clinical and research tests for C0262444 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Glomerular Proteinuria NGS Panel Fulgent Genetics United States	182	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ichthyosis NGS Panel Fulgent Genetics United States	98	43	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
Cleft Palate/Lip NGS Panel Fulgent Genetics United States	127	23	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
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
ACD Single Gene Fulgent Genetics United States	25	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PTPN2 Single Gene Fulgent Genetics United States	7	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
SPRY4 Single Gene Fulgent Genetics United States	38	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
STAT4 Single Gene Fulgent Genetics United States	8	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
POC1A Single Gene Fulgent Genetics United States	37	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PIGT Single Gene Fulgent Genetics United States	43	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KAT6A Single Gene Fulgent Genetics United States	26	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KLLN Single Gene Fulgent Genetics United States	53	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IL17RD Single Gene Fulgent Genetics United States	44	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.