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Results: 1 to 20 of 71 (representing 27 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Menkes disease - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Menkes disease (MK) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Menkes disease (MK) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

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

ATP7A deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

X-Linked Intellectual Disability Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Menkes and related syndromes

Ambry Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ATP7A. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

ATP7A. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

ATP7A Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
31
  • T Targeted variant analysis

ATP7A Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ATP7A Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
31
  • D Deletion/duplication analysis

ATP7A Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ATP7A-Related Copper Transport Disorders (ATP7A) Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ATP7A-Related Copper Transporter Disorders (ATP7A) Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics
United States
31
  • D Deletion/duplication analysis

Results: 1 to 20 of 71

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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