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Results: 1 to 20 of 53 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Rapid microarray (CGH and SNP)

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

Diamond-Blackfan anemia

Ambry Genetics
United States
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diamond-Blackfan Anemia Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1511
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2861
  • C Sequence analysis of the entire coding region

RPS19 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

RPS19 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

RPS19 Sequence Analysis

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

RPS19 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

RPS19 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

RPS19 Comprehensive - Sequence & Deletion/Duplication Analysis

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

Purine Panel - Urine

Baylor Miraca Genetics Laboratories
United States
78
  • A Analyte

Adenosine Deaminase Enzyme Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
21
  • E Enzyme assay

Adenosine Deaminase Enzyme Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • E Enzyme assay

Adenosine Deaminase Enzyme Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • E Enzyme assay

Adenosine Deaminase Enzyme Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • E Enzyme assay

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diamond-Blackfan Anemia Panel

Blueprint Genetics
Finland
112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hematology Panel

Blueprint Genetics
Finland
4175
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anemia Panel

Blueprint Genetics
Finland
268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
943
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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.

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