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Results: 1 to 20 of 61 (representing 37 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

Comprehensive pulmonary disease panel

Centogene AG - the Rare Disease Company
Germany
5766
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
6964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystic Lung Disease Panel (8 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Antitrypsin-alpha-1 deficiency

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Alpha-1 Antitrypsin Deficiency via the SERPINA1 Gene

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

Cholestasis Sequencing Panel

PreventionGenetics
United States
1815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SERPINA1. Complete sequencing

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

SERPINA1. Detection of the mutations Glu342Lys (alelo PI-Z) and Glu264Val (alelo PI-S)

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype

ARUP Laboratories, Molecular Genetics and Genomics
United States
22
  • P Protein analysis
  • T Targeted variant analysis

Alpha-1-Antitrypsin Deficiency

Ambry Genetics
United States
11
  • C Sequence analysis of the entire coding region

Alpha-1-Antitrypsin Mutation / Genotyping

Molecular Diagnostic Laboratory Nebraska Medicince
United States
11
  • T Targeted variant analysis

Cholestasis Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2521
  • D Deletion/duplication analysis

Cholestasis Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2521
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Alpha-1-antitrypsin deficiency

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Cystic Lung Disease Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
1911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystic Lung Disease Panel

Blueprint Genetics
Finland
58
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 61

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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