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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
10999
  • X Mutation scanning of select exons

Congenital Neutropenia GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
4630
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Myeloid Malignancy Panel

Genetic Services Laboratory University of Chicago
United States
3785
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Congenital Neutropenia Panel

PreventionGenetics, part of Exact Sciences
United States
4042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

Genetic Services Laboratory University of Chicago
United States
2959
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Shwachman-Diamond SBDS sequence analysis

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • C Sequence analysis of the entire coding region

Shwachman-Diamond Syndrome

Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center
Turkey
11
  • C Sequence analysis of the entire coding region

Schwachman-Diamond syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Shwachman-Diamond Syndrome: gene deletion/duplication

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • D Deletion/duplication analysis

Shwachman-Diamond Syndrome: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
3632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hereditary Cancer Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
128130
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cancer Predisposition

Asper Biogene Asper Biogene LLC
Estonia
13598
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Neutropenia panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
3940
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 14 of 14

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.