Clinical and research tests for C4755312 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 41

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain	197	128	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Neuronal ceroid lipofuscinosis and progressive myoclonic epilepsy panel. 31-gene NGS panel. Genologica Medica Spain	46	31	C Sequence analysis of the entire coding region
Spastic paraplegia panel Genologica Medica Spain	100	60	C Sequence analysis of the entire coding region
General panel of metabolic myopathies Genologica Medica Spain	114	110	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
FARS2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Mitochondrial Panel, Nuclear genes CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	145	134	C Sequence analysis of the entire coding region
Combined oxidative phosphorylation deficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	39	39	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
Leigh Disease NGS Panel Fulgent Genetics United States	163	75	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
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leukodystrophy and Leukoencephalopathy Panel CeGaT GmbH Germany	36	35	C Sequence analysis of the entire coding region
Leukodystrophy / Leukencephalopathy Panel CeGaT GmbH Germany	36	35	C Sequence analysis of the entire coding region
Mitochondrial Diseases (mtDNA and 217 nuclear genes) Asper Biogene Asper Biogene LLC Estonia	89	210	C Sequence analysis of the entire coding region
FARS2 Single Gene Fulgent Genetics United States	1	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

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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.

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Results: 21 to 40 of 41

Results: 21 to 40 of 41