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Results: 121 to 136 of 136

Tests names and labsConditionsGenes, analytes, and microbesMethods

Syndromes with immunodeficiency Panel

CeGaT GmbH
Germany
3338
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Defects and Heterotaxy Panel

Invitae
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

DiGeorge syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Congenital Heart Defects Panel

CeGaT GmbH
Germany
4244
  • C Sequence analysis of the entire coding region

Heterotaxy Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
156114
  • C Sequence analysis of the entire coding region

TBX1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • D Deletion/duplication analysis

TBX1 Single Gene

Fulgent Genetics
United States
41
  • 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

Severe combined immunodeficiency (SCID) panel

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

TBX1 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiovascular NGS Panel

Fulgent Genetics
United States
671250
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan Spectrum Disorders/Rasopathies

Asper Biogene Asper Biogene LLC
Estonia
4536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TBX1

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
11
  • C Sequence analysis of the entire coding region

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: 121 to 136 of 136

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.