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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

Polyols, Quantitative, Urine

Mayo Clinic Laboratories Mayo Clinic
United States
21
  • A Analyte

RPIA - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ribose 5-phosphate isomerase deficiency, 608611, Autosomal recessive (Ribose-5-P isomerase deficiency) (RPIA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Ribose 5-phosphate isomerase deficiency, 608611, Autosomal recessive (Ribose-5-P isomerase deficiency) (RPIA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

RPIA Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ribose 5-fosfaat isomerase (RPIA) deficiency

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • A Analyte

Results: 1 to 11 of 11

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