Clinical and research tests for C0086543 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PGmax™ - Comprehensive Ocular Disorders Panel PreventionGenetics, part of Exact Sciences United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataract Amplexa Genetics Amplexa Genetics A/S Denmark	1	47	S Mutation scanning of the entire coding region
Cataract Panel GeneDx United States	1	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Cataracts NGS Panel Fulgent Genetics United States	106	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Glomerular Proteinuria NGS Panel Fulgent Genetics United States	182	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ectopia Lentis NGS Panel Fulgent Genetics United States	49	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CLPB Deficiency (CLPB Single Gene Test) Fulgent Genetics United States	19	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
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
Bone Marrow Failure NGS Panel Fulgent Genetics United States	180	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypomagnesemia NGS Panel Fulgent Genetics United States	121	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
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
Adams-Oliver Syndrome NGS Panel Fulgent Genetics United States	55	6	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.