Clinical and research tests for C2675184 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS Panel for Congenital Dyserythropoietic Anemia BloodGenetics Spain	9	12	C Sequence analysis of the entire coding region
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	107	96	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
COX4I2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714, Autosomal recessive (Pancreatic insufficiency-anemia-hyperostosis syndrome) (COX4I2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714, Autosomal recessive (Pancreatic insufficiency-anemia-hyperostosis syndrome) (COX4I2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
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
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pancreatic Insufficiency-Anemia-Hyperostosis, Sequencing COX4I2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Bioarray Spain	1	1	C Sequence analysis of the entire coding region
COX4I2 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
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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