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Results: 1 to 20 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

ABCC9 - 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 Overgrowth Syndromes Panel

Invitae
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cantu syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cantu syndrome Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cantu syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
12
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypertrichotic osteochondrodysplasia, 239850, Autosomal dominant (Hypertrichotic osteochondrodysplasia, Cantu type) (ABCC9 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

Hypertrichotic osteochondrodysplasia, 239850, Autosomal dominant (Hypertrichotic osteochondrodysplasia, Cantu type) (ABCC9 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

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, Part of Exact Sciences
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Cantu syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
12
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cantu syndrome Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cantu syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Sudden Cardiac Arrest Panel

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

Cardiomyopathy Exome Panel

Northwest Clinical Genomics Laboratory University of Washington
United States
3275
  • C Sequence analysis of the entire coding region

Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel

Invitae
United States
13454
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardiomyopathy Comprehensive Panel

Invitae
United States
19882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

Invitae
United States
239100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 49

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.