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Results: 1 to 20 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

High-Resolution Rapid Microarray (CGH and SNP)

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

Rapid microarray (CGH and SNP)

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

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
250155
  • C Sequence analysis of the entire coding region

PGmax™ - Comprehensive Congenital Heart Disease Panel

PreventionGenetics, part of Exact Sciences
United States
241
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Diamond-Blackfan Anemia Panel

Genetic Services Laboratory University of Chicago
United States
1521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

Genetic Services Laboratory University of Chicago
United States
3059
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RPS19 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

RPS19 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

RPS19 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

RPS19 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

RPS19 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

RPS19 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Purine Panel - Urine

Baylor Genetics
United States
78
  • A Analyte

Blackfan-Diamond anemia (sequence analysis of GATA1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
5075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Blackfan-Diamond Anemia

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

RPS15 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

RPS27A Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

RPL9 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Results: 1 to 20 of 51

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.