Clinical and research tests for C0238621 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
AMINOACIDS Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS India	1	1	A Analyte
Lipid Metabolism Deficiency NGS Panel Fulgent Genetics United States	80	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leigh Disease NGS Panel Fulgent Genetics United States	163	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Sideroblastic Anemia NGS Panel Fulgent Genetics United States	24	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TRNT1 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KYNU Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COX14 Single Gene Fulgent Genetics United States	31	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DHTKD1 Single Gene Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PET100 Single Gene Fulgent Genetics United States	33	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EHHADH Single Gene Fulgent Genetics United States	9	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
Paraganglioma-Pheochromocytoma Comprehensive Panel Fulgent Genetics United States	259	11	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
Charcot Marie Tooth Disease Extended NGS Panel Fulgent Genetics United States	181	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis NGS Panel Fulgent Genetics United States	121	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	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.