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Results: 1 to 6 of 6

Tests names and labsConditionsGenes, analytes, and microbesMethods

H6PD - NGS including CNV analysis

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

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Disorders of Sex Development Panel

Invitae
United States
8853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cortisone reductase deficiency 1, 604931, Autosomal recessive; CORTRD1 (Hyperandrogenism due to cortisone reductase deficiency) (H6PD 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

Cortisone reductase deficiency: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

11-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE 1

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Results: 1 to 6 of 6

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