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Results: 1 to 20 of 89

Tests names and labsConditionsGenes, analytes, and microbesMethods

PLOD1 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
11
  • S Mutation scanning of the entire coding region

Aortic diseases Panel

Health in Code
Spain
7135
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code
Spain
6030
  • 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

PLOD1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

CentoDysmorph Panel

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
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

Marfan Syndrome and Related Aortopathies Panel

PreventionGenetics, Part of Exact Sciences
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Comprehensive panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome NGS panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome NGS panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome, type VI, 225400, Autosomal recessive; EDS6 (Ehlers-Danlos syndrome, kyphoscoliotic type) (PLOD1 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

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 89

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.