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Results: 1 to 20 of 92

Tests names and labsConditionsGenes, analytes, and microbesMethods

Autoinflammatory Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
182117
  • C Sequence analysis of the entire coding region

EBV/Lymphoproliferation GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
3525
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HLH Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3523
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

UNC13D Gene Hemophagocytic lymphohistiocytosis type 3 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

UNC13D inversion PCR (2 Day STAT TAT)

Machaon Diagnostics
United States
11
  • T Targeted variant analysis

Hemophagocytic Lymphohistiocytosis (HLH) Extended Genetic Panel (41 genes and UNC13D inversion) (2 Day STAT TAT)

Machaon Diagnostics
United States
741
  • E Sequence analysis of select exons

Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (32 genes and UNC13D inversion) (2 Day STAT TAT)

Machaon Diagnostics
United States
732
  • E Sequence analysis of select exons

UNC13D - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
266186
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • D Deletion/duplication analysis

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 92

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.