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Results: 1 to 20 of 69

Tests names and labsConditionsGenes, analytes, and microbesMethods

SCN5A mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
61
  • C Sequence analysis of the entire coding region

SCN5A - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Heart block, nonprogressive, 113900, Autosomal dominant (Familial progressive cardiac conduction defect) (SCN5A 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

Heart block, nonprogressive, 113900, Autosomal dominant (Familial progressive cardiac conduction defect) (MLPA)

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

Heart block, progressive, type IA, 113900, Autosomal dominant (Familial progressive cardiac conduction defect) (SCN5A 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

Heart block, progressive, type IA, 113900, Autosomal dominant (Familial progressive cardiac conduction defect) (MLPA)

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

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Invitae
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LongQTNext™

Ambry Genetics
United States
3317
  • 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

Progressive familial heart block type I Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
92
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Progressive familial heart block type I Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
92
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progressive familial heart block type I NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
92
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
223198
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 69

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.