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Results: 1 to 20 of 195

Tests names and labsConditionsGenes, analytes, and microbesMethods

Angelman syndrome, 105830, Isolated cases; AS (Angelman syndrome) (UBE3A gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Angelman syndrome, 105830, Isolated cases; AS (Angelman syndrome) (UBE3A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Angelman Syndrome, Methylation Studies

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • M Methylation analysis

Angelman Syndrome

Genetics Laboratory Shodair Children's Hospital
United States
12
  • M FISH-metaphase
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

Prader-Willi Syndrome/Angelman Syndrome Methylation Analysis

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
21
  • M Methylation analysis

Prader Willi/Angelman Mol Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • M Methylation analysis

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

Microdeletion / Microduplication Syndromes

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
2839
  • 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

Micro-deletion study for Angelman syndrome

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • F Fluorescence in situ hybridization (FISH)

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

UBE3A Gene Sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
21
  • C Sequence analysis of the entire coding region

CDKL5 Gene Sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
51
  • C Sequence analysis of the entire coding region

Panorama Non-invasive Prenatal Test

Natera, Inc.
United States
1210
  • T Targeted variant analysis

Angelman Syndrome

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • D Deletion/duplication analysis
  • M Methylation analysis

Results: 1 to 20 of 195

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.