Clinical and research tests for C4692546 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	107	96	C Sequence analysis of the entire coding region
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
FECH - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	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
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Iron Related Disorders Panel Invitae United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Porphyrias Panel Invitae United States	15	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Protoporphyria, erythropoietic, autosomal recessive, 177000, Autosomal recessive; EPP (Autosomal erythropoietic protoporphyria) (FECH 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
Protoporphyria, erythropoietic, autosomal recessive, 177000, Autosomal recessive; EPP (Autosomal erythropoietic protoporphyria) (FECH 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
Protoporphyria, erythropoietic, autosomal recessive, 177000, Autosomal recessive; EPP (Autosomal erythropoietic protoporphyria) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Protoporphyria, erythropoietic, autosomal recessive, 177000, Autosomal recessive; EPP (Autosomal erythropoietic protoporphyria) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
FECH Department of Clinical Genetics Odense University Hospital Denmark	1	1	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Porphyria panel. 9-gene NGS panel. Genologica Medica Spain	13	9	C Sequence analysis of the entire coding region
FECH Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Protoporphyria, erythropoietic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region

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