Clinical and research tests for C1837174 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
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
UNC13D inversion PCR (2 Day STAT TAT) Machaon Diagnostics United States	1	1	T Targeted variant analysis
Hemophagocytic Lymphohistiocytosis (HLH) Extended Genetic Panel (41 genes and UNC13D inversion) (2 Day STAT TAT) Machaon Diagnostics United States	7	41	E Sequence analysis of select exons
Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (32 genes and UNC13D inversion) (2 Day STAT TAT) Machaon Diagnostics United States	7	32	E Sequence analysis of select exons
UNC13D - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	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, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Hemophagocytic Lymphohistiocytosis-Type 3 (FHL3) via the UNC13D Inversion PreventionGenetics, part of Exact Sciences United States	1	1	T Targeted variant analysis
Hemophagocytic lymphohistiocytosis, familial, 3, 608898; FHL3 (Familial hemophagocytic lymphohistiocytosis) (UNC13D 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
Hemophagocytic lymphohistiocytosis, familial, 3, 608898; FHL3 (Familial hemophagocytic lymphohistiocytosis) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemophagocytic lymphohistiocytosis, familial, 3, 608898; FHL3 (Familial hemophagocytic lymphohistiocytosis) (UNC13D 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
Hemophagocytic lymphohistiocytosis, familial, 3, 608898; FHL3 (Familial hemophagocytic lymphohistiocytosis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis 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

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