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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

SNP Microarray Analysis (Chromosomal Microarray)

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
4521
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Chromosome 7q11.23 duplication syndrome, 609757, Autosomal dominant (7q11.23 microduplication syndrome) (Prenatal) (440)

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

Chromosome 7q11.23 duplication syndrome, 609757, Autosomal dominant (7q11.23 microduplication syndrome) (440)

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

Williams-Beuren duplication syndrome

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

Constitutional Chromosomal Microarray Analysis

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

Microarray Testing

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

EpiSign Variant

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

EpiSign Complete

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

Molecular karyotype 180K

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

WILLIAMS-BEUREN SYNDROME (SUPRAVALVULAR AORTIC STENOSIS)

Laboratorio de Genetica Clinica SL
Spain
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

180K CGH+SNP microarray analysis

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

Williams-Beuren Region Duplication Syndrome

MGZ Medical Genetics Center
Germany
11
  • D Deletion/duplication analysis

Williams-Beuren Region Duplication Syndrome

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • M FISH-metaphase

Results: 1 to 17 of 17

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.