Clinical and research tests for C1863728 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
EBV/Lymphoproliferation GenePanel Mayo Clinic Laboratories Mayo Clinic United States	35	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HLH Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (36 genes and UNC13D inversion) (2 Day STAT TAT) Machaon Diagnostics United States	7	36	C Sequence analysis of the entire coding region
Bone Marrow Failure / Anemia Panel Centogene US, LLC - The Rare Disease Company United States	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene US, LLC - The Rare Disease Company United States	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
STX11 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
STX11 - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Inherited Bone Marrow Failure Panel PreventionGenetics United States	266	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hemophagocytic lymphohistiocytosis, familial, 4, 603552, Autosomal recessive; FHL4 (Familial hemophagocytic lymphohistiocytosis) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Hemophagocytic lymphohistiocytosis, familial, 4, 603552, Autosomal recessive; FHL4 (Familial hemophagocytic lymphohistiocytosis) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Hemophagocytic lymphohistiocytosis, familial, 4, 603552, Autosomal recessive; FHL4 (Familial hemophagocytic lymphohistiocytosis) (STX11 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Hemophagocytic lymphohistiocytosis, familial, 4, 603552, Autosomal recessive; FHL4 (Familial hemophagocytic lymphohistiocytosis) (STX11 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Invitae United States	37	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States	223	154	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel PreventionGenetics United States	28	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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