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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

PAX8 - NGS including CNV analysis

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

Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700, Autosomal dominant; CHNG2 (Athyreosis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Congenital Hypothyroidism and Thyroid Hormone Resistance Panel

PreventionGenetics, part of Exact Sciences
United States
3226
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Hypothyroidism (Thyroid Dysgenesis) via the PAX8 Gene

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

Hypothyroidism and Resistance to Thyroid Hormone NGS Panel

Fulgent Genetics
United States
4119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypothyroidism Panel

Genetic Services Laboratory University of Chicago
United States
1133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PAX8 Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PAX8 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
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PAX8 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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