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Results: 1 to 20 of 127

Tests names and labsConditionsGenes, analytes, and microbesMethods

Schaaf-yang syndrome testing (MAGEL2)

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Prader-Willi Syndrome, Methylation Analysis

Center for Genetics at Saint Francis Saint Francis Hospital
United States
11
  • M Methylation analysis

Angelman Syndrome, Methylation Studies

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

Prader-Willi 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 Prader-Willi 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

Panorama Non-invasive Prenatal Test

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

Prader-Willi Syndrome

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

Imprinting ceneter (IC) deletion analysis

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis

Prader Willi-Angelman Syndrome Methylation-Specific PCR Analysis

Molecular Diagnostics Laboratory Duke University Health System
United States
21
  • M Methylation analysis

SNRPN - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 127

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.