Clinical and research tests for C1840069 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Roberts Syndrome (ESCO2 Single Gene Test) Fulgent Genetics United States	96	1	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
Hypomyelinating Leukodystrophy NGS Panel Fulgent Genetics United States	225	62	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
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PLK4 Single Gene Fulgent Genetics United States	39	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ATRIP Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COX7B Single Gene Fulgent Genetics United States	61	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ESCO2 Single Gene Fulgent Genetics United States	96	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CENPE Single Gene Fulgent Genetics United States	27	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias NGS Panel Fulgent Genetics United States	542	178	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5124	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1102	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microcephaly NGS Panel Fulgent Genetics United States	322	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States	1017	459	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.