Clinical and research tests for C0026034 - 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
Burn-McKeown Syndrome (TXNL4A Single Gene Test) Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	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
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micro Syndrome NGS Panel Fulgent Genetics United States	62	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macrocephaly/Overgrowth Syndrome NGS Panel Fulgent Genetics United States	100	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Cortical Malformation NGS Panel Fulgent Genetics United States	210	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States	244	78	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPEG Single Gene Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TBC1D20 Single Gene Fulgent Genetics United States	55	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TXNL4A Single Gene Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EIF4A3 Single Gene Fulgent Genetics United States	43	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAT4 Single Gene Fulgent Genetics United States	91	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAM111A Single Gene Fulgent Genetics United States	90	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CCND2 Single Gene Fulgent Genetics United States	18	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GNAI3 Single Gene Fulgent Genetics United States	25	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States	1018	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.