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Results: 1 to 20 of 22

Tests names and labsConditionsGenes, analytes, and microbesMethods

Chromosome 22q11.2 microduplication syndrome, 608363, Autosomal dominant, Isolated cases (22q11.2 microduplication syndrome) (440)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Chromosome 22q11.2 microduplication syndrome, 608363, Autosomal dominant, Isolated cases (22q11.2 microduplication syndrome) (Prenatal) (440)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Mitochondrial complex II deficiency (sequence analysis of SDHAF1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Microdeletion / Microduplication Syndromes

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
2839
  • D Deletion/duplication analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

aCGH study for cryptic quantitative genomic imbalances

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
9024
  • D Deletion/duplication analysis

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Chromosomal microarray

Michigan Medical Genetics Laboratories University of Michigan
United States
181
  • D Deletion/duplication analysis

22q11.2 microduplication syndrome

Genetics Service Unit BRIC-National Institute of Biomedical Genomics
India
11
  • D Deletion/duplication analysis

22q11.2 Deletion/Duplication Analysis

Children's Hospital of Los Angeles, Center for Personalized Medicine
United States
51
  • D Deletion/duplication analysis

22q11.2 Deletion/Duplication, FISH

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • I FISH-interphase

Constitutional Chromosomal Microarray Analysis

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
261
  • D Deletion/duplication analysis

22q11.2 duplication syndrome FISH

Cytogenetics Laboratory University of Washington
United States
11
  • I FISH-interphase

Microarray Testing

Cytogenetics Laboratory SUNY Upstate Medical University
United States
1141
  • F Fluorescence in situ hybridization (FISH)

22Q11.2 Del/Dup

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
41
  • D Deletion/duplication analysis

Molecular karyotype 180K

Genolife InformaciĆ³n de Vida
Mexico
3416
  • D Deletion/duplication analysis

Frequent syndromes panel

Genolife InformaciĆ³n de Vida
Mexico
67
  • D Deletion/duplication analysis

Di George Syndrome

Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences
Iran
21
  • M FISH-metaphase

180K CGH+SNP microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
2311
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Di George Syndrome

Genomic Research Center Shahid Beheshti University of Medical Sciences
Iran
21
  • M FISH-metaphase

Results: 1 to 20 of 22

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.