Clinical and research tests for C4551511 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyperferritinemia Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	15	15	D Deletion/duplication analysis E Sequence analysis of select exons 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
NGS Panel for Congenital Erythropoietic Protoporphyria and Congenital erytropoietic Porphyria. BloodGenetics Spain	3	4	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
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
ALAS2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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 Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.