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Results: 1 to 20 of 22 (representing 13 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

LYSINURIC PROTEIN INTOLERANCE

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

Urea Cycle Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1311
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

SLC7A7. Complete sequencing

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

SLC7A7 Gene Sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
11
  • C Sequence analysis of the entire coding region

Amino Acid Analysis - Urine

Baylor Genetics
United States
327
  • A Analyte

Lysinuric protein intolerance (LPI)

VU University Medical Center Metabolic Unit, PX 1X 009
Netherlands
11
  • C Sequence analysis of the entire coding region

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysinuric protein intolerance

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Pulmonary Alveolar Proteinosis NGS Panel

Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
108
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diffuse Lung Disease NGS Panel

Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
1716
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC7A7 Deletion/duplication analysis

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

SLC7A7 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1414
  • D Deletion/duplication analysis

SLC7A7

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

Inherited Metabolic Disorders: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
121101
  • C Sequence analysis of the entire coding region

Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS)

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
1414
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

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

Amino Acid Analysis, LC/MS, Urine (NY)

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
810
  • A Analyte

Results: 1 to 20 of 22

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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