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Results: 1 to 20 of 102 (representing 36 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CDKN1C sequencing

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

Chromosome 11-related Beckwith-Wiedemann Syndrome

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

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

Rapid microarray (CGH and SNP)

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

Beckwith-Wiedemann syndrome

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

Beckwith-Wiedemann syndrome

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

Beckwith-Wiedemann syndrome

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

Beckwith-Wiedemann syndrome

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

CDKN1C mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
21
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann Syndrome (Methylation Analysis)

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
12
  • D Deletion/duplication analysis
  • M Methylation analysis
  • U Uniparental disomy study (UPD)

CDKN1C. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Uniparental Disomy

Genetics Laboratory Shodair Children's Hospital
United States
101
  • T Targeted variant analysis

Beckwith-Wiedemann Syndrome via the CDKN1C Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann Syndrome , Sequencing CDKN1C Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Overgrowth and Macrocephaly Syndromes Panel

Invitae
United States
4320
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Baylor Miraca Genetics Laboratories
United States
13561
  • E Sequence analysis of select exons

Results: 1 to 20 of 102

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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