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Results: 1 to 20 of 126

Tests names and labsConditionsGenes, analytes, and microbesMethods

INI1/SMARCB1

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CCHS PHOX2B Seq + Repeat Expansion

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Saethre Chotzen Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TWIST1 Del/Dup

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
12
  • D Deletion/duplication analysis

TP53 Seq Somatic

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
11
  • C Sequence analysis of the entire coding region

TP53 Del/Dup Somatic

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
11
  • D Deletion/duplication analysis

TP53 Seq + Del/Dup Somatic

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuroblastoma Liquid Biopsy Panel (Circulating Tumor DNA)

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
123
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Hematologic Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2215
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Comprehensive Solid Tumor Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2315
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

ALK Seq Somatic

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ALK + PHOX2B Germline Analysis

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ALK + PHOX2B Somatic Analysis

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

mtDNA Content Analysis

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
11
  • D Deletion/duplication analysis

Sickle Cell Disease Globin Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paired Tumor/Normal - 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

Paired Tumor/Normal - Comprehensive Hematologic Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2215
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy (SMN1 Deletion)

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
42
  • D Deletion/duplication analysis

Hemophagocytic Lymphohistiocytosis (HLH) Panel 

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Leukemia/Lymphoma Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
331
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 126

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.