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Results: 1 to 20 of 67

Tests names and labsConditionsGenes, analytes, and microbesMethods

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)

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

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

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • 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

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Prader-Willi/Angelman Syndrome DNA Methylation

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
21
  • M Methylation analysis

Prader-Willi syndrome, 176270, Isolated cases (Prader-Willi syndrome) (Prenatal) (MLPA)

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

Prader-Willi syndrome, 176270, Isolated cases (Prader-Willi syndrome) (MLPA)

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

Prader-Willi syndrome, 176270, Isolated cases (Prader-Willi syndrome) (SNRPN 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

Prader-Willi syndrome, 176270, Isolated cases (Prader-Willi syndrome) (SNRPN 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

Prader-Willi or Angelman Syndrome Analysis

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
22
  • M Methylation analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 67

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.