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Results: 1 to 19 of 19

Tests names and labsConditionsGenes and analytesMethods

Glycogen storage disease type IX

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PHKA2 Mutation Analysis

Molecular Diagnostics Laboratory Duke University Health System
United States
11
  • C Sequence analysis of the entire coding region

PHKA2. Complete sequencing

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

Glycogen Storage Disease NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
1514
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PHKA2 Deletion/Duplication Analysis

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

PHKA2 Comprehensive - Sequence & Deletion/Duplication Analysis

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

PHKA2 Sequence Analysis (Prenatal Diagnosis)

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

MitoMet®Plus aCGH Analysis

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

X-chromosome High Resolution microarray analysis

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

Glycogen Storage Disease Type IX via the PHKA2 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary fibrosis, idiopathic, and Surfactant protein deficiency

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3313
  • C Sequence analysis of the entire coding region

GLYCOGEN STORAGE DISEASE

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2424
  • C Sequence analysis of the entire coding region

Glycogen storage disease type IXa1 (sequence analysis of PHKA2 gene)

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

Metabolic Myopathies Panel

CeGaT GmbH
Germany
2641
  • C Sequence analysis of the entire coding region

PHKA2

Division Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

PHKA2

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen Storage Disorders: Comprehensive Sequencing Panel

Emory Genetics Laboratory Emory University
United States
2420
  • C Sequence analysis of the entire coding region

Glycogen Storage Disorders- Liver: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
1311
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.