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Results: 1 to 20 of 104

Tests names and labsConditionsGenes, analytes, and microbesMethods

DSP Gene Arrhythmogenic right ventricular cardiomyopathy type 8 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Lipodystrophy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2312
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Nephrology Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1299
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FSGS/Nephrotic Syndrome Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2556
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dyslipidemias / Early atherosclerosis

Health in Code
Spain
184
  • C Sequence analysis of the entire coding region

Cardiovascular Diseases_General Panel

Health in Code
Spain
1380
  • C Sequence analysis of the entire coding region

Mixed hyperlipidemias

Health in Code
Spain
1113
  • C Sequence analysis of the entire coding region

ZMPSTE24 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Ichthyosis Panel

Invitae
United States
7745
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Monogenic Diabetes Panel

PreventionGenetics, part of Exact Sciences
United States
10154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital contracture syndrome extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lethal congenital contracture syndrome and related disorders NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 104

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.