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Results: 1 to 20 of 92

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

FKTN - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FKTN - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
202128
  • D Deletion/duplication analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Cardiomyopathy, dilated, 1X, 611615, Autosomal recessive; CMD1X (Familial isolated dilated cardiomyopathy) (FKTN gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Cardiomyopathy, dilated, 1X, 611615, Autosomal recessive; CMD1X (Familial isolated dilated cardiomyopathy) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
482254
  • C Sequence analysis of the entire coding region

DCMNext®

Ambry Genetics
United States
10137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
237167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CMNext®

Ambry Genetics
United States
13956
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CardioNext®

Ambry Genetics
United States
19092
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pan Cardiomyopathy Panel

PreventionGenetics
United States
113106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dilated Cardiomyopathy Panel

PreventionGenetics
United States
6460
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Sudden Cardiac Arrest Panel

PreventionGenetics
United States
6349
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Panel

PreventionGenetics
United States
220196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Muscular Dystrophy Panel

Invitae
United States
6428
  • D Deletion/duplication analysis

Invitae Comprehensive Muscular Dystrophy Panel

Invitae
United States
11552
  • D Deletion/duplication analysis

Results: 1 to 20 of 92

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.