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Results: 121 to 136 of 136

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hematologic Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Selected Genetic Syndromes with skeletal involvement Panel

CeGaT GmbH
Germany
3642
  • C Sequence analysis of the entire coding region

CAKUT

Hildebrandt Laboratory Boston Children's Hospital
United States
2204
  • C Sequence analysis of the entire coding region

Cornelia de Lange and Related Disorders Panel

Genetic Services Laboratory University of Chicago
United States
1231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hemato-oncology chromosomal microarray

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
2393
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Microcephaly

Asper Biogene Asper Biogene LLC
Estonia
11196
  • C Sequence analysis of the entire coding region

Single gene testing EP300

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Rubinstein-Taybi syndrome 2 (EP300)

MVZ Dr. Eberhard & Partner Dortmund
Germany
11
  • C Sequence analysis of the entire coding region

Rubinstein-Taybi syndrome 2 (EP300) MLPA

MVZ Dr. Eberhard & Partner Dortmund
Germany
11
  • D Deletion/duplication analysis

Rubinstein-Taybi syndrome 2 (EP300) MLPA

MVZ Dr. Eberhard & Partner Dortmund
Germany
11
  • D Deletion/duplication analysis

EP300 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rubinstein-Taybi Syndrome NGS Panel

Fulgent Genetics
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short Stature NGS Panel

Fulgent Genetics
United States
2411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 121 to 136 of 136

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.