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Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

Methylation analysis for Silver Russell syndrome

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
11
  • M Methylation analysis

CDKN1C Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • C Sequence analysis of the entire coding region

Chromosomal microarray

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2351
  • M FISH-metaphase
  • K Karyotyping
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • U Uniparental disomy study (UPD)

UPD7 testing

Genetic Services Laboratory University of Chicago
United States
11
  • U Uniparental disomy study (UPD)

BWS/RSS Molecular Analysis

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

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Silver-Russell syndrome, 180860, Isolated cases; SRS (Silver-Russell syndrome) (MLPA)

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

Silver-Russell syndrome, 180860, Isolated cases; SRS (Silver-Russell syndrome) (Prenatal) (MLPA)

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

Silver-Russell syndrome, 180860, Isolated cases; SRS (Silver-Russell syndrome) (H19 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

Russel-Silver syndrome (MEST 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

Russel-Silver syndrome (MEST 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

Silver-Russell syndrome, 180860, Isolated cases; SRS (Silver-Russell syndrome) (H19 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

Uniparental Disomy

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

Silver-Russel Syndrome (UPD7)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
13
  • M Methylation analysis

Silver-Russel Syndrome (11p15)

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • M Methylation analysis

EpiSign Variant

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

Beckwith-Wiedemann syndrome panel

Genologica Medica
Spain
2010
  • C Sequence analysis of the entire coding region

Beckwith-Wiedemann syndrome panel. NGS panel of 10 genes.

Genologica Medica
Spain
2010
  • C Sequence analysis of the entire coding region

Silver-Russell 11p15 Hypomethylation

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • M Methylation analysis

Silver-Russell mat UPD7

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • M Methylation analysis

Results: 1 to 20 of 42

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.