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Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

NKX2-1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NKX2-1 - Sanger sequencing

Centogene AG - the Rare Disease Company
Germany
31
  • C Sequence analysis of the entire coding region

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Surfactant Metabolism Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4019
  • D Deletion/duplication analysis

Invitae Neonatal Respiratory Distress Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
638419
  • D Deletion/duplication analysis

Neonatal Respiratory Distress Panel

PreventionGenetics, part of Exact Sciences
United States
75
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, Autosomal dominant (Brain-lung-thyroid syndrome) (NKX2-1 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

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, Autosomal dominant (Brain-lung-thyroid syndrome) (NKX2-1 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

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, Autosomal dominant (Brain-lung-thyroid syndrome) (MLPA)

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

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, Autosomal dominant (Brain-lung-thyroid syndrome) (Prenatal) (MLPA)

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

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
162129
  • C Sequence analysis of the entire coding region

Interstitial Lung Disease Panel

PreventionGenetics, part of Exact Sciences
United States
2624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
810
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

Panel of surfactant dysfunction and neonatal respiratory distress

Genologica Medica
Spain
75
  • C Sequence analysis of the entire coding region

Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes.

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

Results: 1 to 20 of 42

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.