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Results: 1 to 20 of 115

Tests names and labsConditionsGenes, analytes, and microbesMethods

ABCC6 Gene Pseudoxanthoma elasticum NGS Genetic DNA Test

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

ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic DNA Test

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

ABCC6 Gene Arterial calcification type 2, generalized, infantile NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

Renal Stone/Electrolyte Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • 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

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ABCC6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue and Related Disorder Panel

Centogene AG - the Rare Disease Company
Germany
7576
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal Mineralization Panel

Centogene AG - the Rare Disease Company
Germany
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
19592
  • D Deletion/duplication analysis

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Arterial calcification, generalized, of infancy Deletion/ Duplication panel

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

Arterial calcification, generalized, of infancy 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

Arterial calcification, generalized, of infancy NGS panel

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

Arterial calcification, generalized, of infancy, 2, 614473, Autosomal recessive; GACI2 (Generalized arterial calcification of infancy) (MLPA)

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

Results: 1 to 20 of 115

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.