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Results: 1 to 20 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

EPISign Whole Genome Methylation Assay

Molecular Genetics Laboratory London Health Sciences Centre
Canada
191
  • M Methylation analysis

High-Resolution Rapid Microarray (CGH and SNP)

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

Rapid microarray (CGH and SNP)

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

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

PGmax™ - Comprehensive Congenital Heart Disease Panel

PreventionGenetics, part of Exact Sciences
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Williams-Beuren syndrome, 194050, Autosomal dominant; WBS (Williams syndrome) (MLPA)

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

Williams-Beuren syndrome, 194050, Autosomal dominant; WBS (Williams syndrome) (Prenatal) (FISH)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • F Fluorescence in situ hybridization (FISH)

Williams-Beuren syndrome, 194050, Autosomal dominant; WBS (Williams syndrome) (FISH)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • F Fluorescence in situ hybridization (FISH)

Williams-Beuren syndrome, 194050, Autosomal dominant; WBS (Williams syndrome) (Prenatal) (MLPA)

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

qChip 180

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Williams-Beuren syndrome

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

Invitae Congenital Heart Disease Panel

Invitae
United States
10755
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Constitutional Chromosomal Microarray Analysis

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

Williams syndrome FISH

Cytogenetics Laboratory University Of Washington
United States
11
  • M FISH-metaphase

FISH, Williams

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
11
  • M FISH-metaphase

FISH, Williams

Quest Diagnostics Nichols Institute Chantilly
United States
11
  • M FISH-metaphase

Results: 1 to 20 of 64

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.