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Results: 21 to 32 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel

PreventionGenetics, part of Exact Sciences
United States
2828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mevalonate Kinase Deficiency (MVK Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Coenzyme Q10 Deficiency NGS Panel

Fulgent Genetics
United States
3315
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Periodic Fever/Autoinflammatory Disorders NGS Panel

Fulgent Genetics
United States
6828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autoinflammatory Syndrome Panel

Blueprint Genetics
Finland
632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVK Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Periodic Fever NGS and Deletion/Duplication Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVK Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 32 of 32

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.