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Results: 1 to 20 of 46

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
2457
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • 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

Inherited Bone Marrow Failure Panel

NeoGenomics Laboratories
United States
958
  • C Sequence analysis of the entire coding region

RPL35A - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
21
  • E Sequence analysis of select exons
  • T Targeted variant analysis

RPL11 - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
21
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Results: 1 to 20 of 46

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.