Clinical and research tests for C0751837 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lipid Metabolism Deficiency NGS Panel Fulgent Genetics United States	80	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	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
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	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
Late-Onset Ataxia NGS Panel Fulgent Genetics United States	133	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	533	149	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
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
SLC9A1 Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TECPR2 Single Gene Fulgent Genetics United States	20	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WWOX Single Gene Fulgent Genetics United States	43	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TUBB4A Single Gene Fulgent Genetics United States	33	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KIF1C Single Gene Fulgent Genetics United States	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ITPR1 Single Gene Fulgent Genetics United States	25	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHAMP1 Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EEF2 Single Gene Fulgent Genetics United States	10	1	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.