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Results: 81 to 92 of 92

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Intellectual Disability NGS Panel

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

22q11.2 Deletion Syndrome (DiGeorge Syndrome, VCFS, Shprintzen syndrome, CTAF)

MVZ Dr. Eberhard & Partner Dortmund
Germany
31
  • M FISH-metaphase
  • D Deletion/duplication analysis

DiGeorge syndrome

MedGene
Slovakia
11
  • D Deletion/duplication analysis

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

DiGeorge syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis

Chromosome FISH, Metaphase

ARUP Laboratories, Cytogenetics and Genomic Microarray ARUP Laboratories
United States
149
  • M FISH-metaphase

22q11.2 deletion/duplication

Molecular Genetics Laboratory Alberta Precision Labs
Canada
21
  • D Deletion/duplication analysis

FISH, 22q11.2 Deletion Syndrome

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
31
  • M FISH-metaphase
  • H Detection of homozygosity

Results: 81 to 92 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.