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Results: 1 to 18 of 18 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Chromosome 11-related Beckwith-Wiedemann Syndrome

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
12
  • M Methylation analysis

Russell-Silver Syndrome

Genetics Laboratory Shodair Children's Hospital
United States
22
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

Beckwith-Wiedemann Syndrome

Genetics Laboratory Shodair Children's Hospital
United States
13
  • F Fluorescence in situ hybridization (FISH)
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

Beckwith-Wiedemann Syndrome (methylation test)

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
22
  • M Methylation analysis

Beckwith-Wiedemann syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Chromosome 11-Related Russell-Silver Syndrome

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
12
  • M Methylation analysis

Silver-Russel Syndrome (11p15)

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
11
  • M Methylation analysis

BECKWITH-WIEDEMANN SYNDROME

Laboratorio de Genetica Clinica SL
Spain
14
  • M Methylation analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

Isolated hemihyperplasia (methylation analysis of KCNQ1OT1 and H19 genes)

CGC Genetics
Portugal
12
  • M Methylation analysis

H19

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Russell-Silver syndrome: Methylation detection and deletions-duplications analysis (MLPA) (KvDMR / H19DMR domains)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
17
  • D Deletion/duplication analysis

Beckwith-Wiedemann syndrome

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
13
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann Syndrome: H19 Methylation

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • M Methylation analysis

Beckwith-Wiedemann Syndrome Panel: H19 and Lit1 Methylation

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
12
  • M Methylation analysis

Russell-Silver Syndrome: H19 Methylation

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • M Methylation analysis

Russell-Silver Syndrome: H19 Methylation and UPD7

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • M Methylation analysis

Test for Chromosome 11p15.5-Related Russell-Silver Syndrome

Genome Diagnostics Laboratory The Hospital for Sick Children
Canada
11
  • D Deletion/duplication analysis
  • M Methylation analysis

Test for Beckwith-Wiedemann Syndrome

Genome Diagnostics Laboratory The Hospital for Sick Children
Canada
13
  • D Deletion/duplication analysis
  • M Methylation analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

Results: 1 to 18 of 18

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.

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