Clinical and research tests for C1384666 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Beacon Ashkenazi Jewish Male Carrier Screening Panel Fulgent Genetics United States	145	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States	93	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lipid Metabolism Deficiency NGS Panel Fulgent Genetics United States	80	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly-Capillary Malformation Syndrome (STAMBP Single Gene Test) Fulgent Genetics United States	32	1	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
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
Nonsyndromic Hearing Loss NGS Panel Fulgent Genetics United States	146	99	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
Facial Dysostosis and Related Disorders NGS Panel Fulgent Genetics United States	85	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	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
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States	188	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Robinow Syndrome NGS Panel Fulgent Genetics United States	76	5	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

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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.