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Results: 1 to 14 of 14

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

Hypothyroidism congenital nongoitrous type 2

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

Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel

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

CONGENITAL HYPOTHYROIDISM – NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
1414
  • C Sequence analysis of the entire coding region

Hypothyroidism and Thyroid Hormone Resistance

Asper Biogene Asper Biogene LLC
Estonia
2921
  • C Sequence analysis of the entire coding region

CONGENITAL HYPOTHYROIDISM

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1922
  • C Sequence analysis of the entire coding region

PAX8 Gene Sequencing

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

Congenital Hypothyroidism, Nongoitrous NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
125
  • C Sequence analysis of the entire coding region

Single gene testing PAX8

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

PAX8

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

PAX8 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Nongoitrous Hypothyroidism 2

Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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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