U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 19 of 19

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • 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

Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700, Autosomal dominant; CHNG2 (Athyreosis) (PAX8 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

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 thyroid hormone resistance panel. NGS panel of 21 genes.

Genologica Medica
Spain
4221
  • C Sequence analysis of the entire coding region

Female Infertility

Asper Biogene Asper Biogene LLC
Estonia
8564
  • C Sequence analysis of the entire coding region

Hypothyroidism, congenital, nongoitrous: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

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

Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes

Reference Laboratory Genetics
Spain
2419
  • 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

Single gene testing PAX8

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

Male Factor Infertility

Asper Biogene Asper Biogene LLC
Estonia
9990
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Congenital Nongoitrous Hypothyroidism 2

Molecular Diagnostics Lab Nemours Children's Health, Delaware
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.