Clinical and research tests for C0034341 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First < Prev

Page 3 of 4

Results: 41 to 60 of 73

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Hyperammonemia and urea cycle disorders panel. 48-gene NGS panel. Genologica Medica Spain	49	48	C Sequence analysis of the entire coding region
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain	73	50	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
Mitochondrial Panel, Nuclear genes CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	145	134	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
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
Pyruvate Metabolism Disorders NGS Panel Fulgent Genetics United States	18	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurotransmitter Metabolism Deficiency NGS Panel Fulgent Genetics United States	85	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hyperammonemia and Urea Cycle Disorder NGS Panel Fulgent Genetics United States	70	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoglycemia Gluconeogenesis NGS Panel Fulgent Genetics United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoglycemia NGS Panel Fulgent Genetics United States	71	53	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
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Czech Republic	3	29	C Sequence analysis of the entire coding region
Pyruvate Carboxylase Deficiency: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Reference Laboratory Genetics Spain	108	82	C Sequence analysis of the entire coding region

<< First < Prev

Page 3 of 4

Results: 41 to 60 of 73

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.