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Results: 1 to 20 of 251

Tests names and labsConditionsGenes, analytes, and microbesMethods

COL1A2 Gene Ehlers-Danlos syndrome type 7B NGS Genetic DNA Test

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

COL1A2 Gene Osteogenesis imperfecta NGS Genetic DNA Test

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

Comprehensive Aortopathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
5448
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2822
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OI and Bone Fragility Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypophosphatasia (HPP) and Osteogenesis Imperfecta (OI) Genetic Panel (2 Day STAT TAT)

Machaon Diagnostics
United States
1815
  • C Sequence analysis of the entire coding region

Aortic diseases Panel

Health in Code
Spain
7135
  • 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

Aortic Valvular Diseases Panel

Health in Code
Spain
6030
  • C Sequence analysis of the entire coding region

Inherited Cardiovascular Diseases and Sudden Death Panel

Health in Code
Spain
1213
  • 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

COL1A2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • 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

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • 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

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

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Results: 1 to 20 of 251

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.