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Results: 41 to 46 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Myasthenic Syndrome NGS Panel

Fulgent Genetics
United States
10528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe combined immunodeficiency (SCID) panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
3027
  • C Sequence analysis of the entire coding region

STAT5B Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

STIM1 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
3541
  • C Sequence analysis of the entire coding region

Results: 41 to 46 of 46

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.