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Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypothyroidism, congenital nongoitrous, 5, 225250, Autosomal dominant; CHNG5 (Athyreosis) (MLPA)

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

Hypothyroidism, congenital nongoitrous, 5, 225250, Autosomal dominant; CHNG5 (Athyreosis) (NKX2-5 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

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

NKX2-5 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • 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

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RhythmNext®

Ambry Genetics
United States
9142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCMNext®

Ambry Genetics
United States
10037
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CMNext®

Ambry Genetics
United States
13856
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CardioNext®

Ambry Genetics
United States
18992
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
327300
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
10755
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
239100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Arrhythmia Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
11541
  • D Deletion/duplication analysis
  • 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

Results: 1 to 20 of 45

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.