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Results: 1 to 20 of 40

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

Comprehensive SCID panel

Centogene AG - the Rare Disease Company
Germany
2523
  • C Sequence analysis of the entire coding region

B-positive SCID panel

Centogene AG - the Rare Disease Company
Germany
1615
  • C Sequence analysis of the entire coding region

Immunodeficiency due to purine nucleoside phosphorylase deficiency

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

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

PNP. Complete sequencing

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

DCK. Complete sequencing

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

PNP Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • C Sequence analysis of the entire coding region

PNP Prenatal Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Sequence analysis of select exons

PNP Familial Mutation/Variant Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Sequence analysis of select exons

Purine and Pyrimidine Panel - Urine

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
913
  • A Analyte

Purine Nucleoside Phosphorylase Enzyme Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Enzyme assay

Purine Nucleoside Phosphorylase Enzyme Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Enzyme assay

Purine Panel - Urine

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
78
  • A Analyte

Purine Nucleoside Phosphorylase Enzyme Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Enzyme assay

Purine Nucleoside Phosphorylase Enzyme Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Enzyme assay

NGS Neurodegenerative disorders Multi-Gene Panel (73 genes)

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
4160
  • C Sequence analysis of the entire coding region

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Purine Nucleoside Phosphorylase Deficiency, Sequencing PNP Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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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