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Results: 1 to 20 of 186

Tests names and labsConditionsGenes, analytes, and microbesMethods

PTPN11 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
51
  • C Sequence analysis of the entire coding region

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Aortic diseases Panel

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

Rasopathies NGS Panel

Health in Code
Spain
2612
  • 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

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

Pan Cardiomyopathy Panel (62 Genes)

Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine
United States
10161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PTPN11-related Noonan Syndrome

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • E Sequence analysis of select exons

PTPN11-related Noonan Syndrome

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • E Sequence analysis of select exons

Infertility Panel

Centogene US, LLC - The Rare Disease Company
United States
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Blood Coagulation Panel

Centogene US, LLC - The Rare Disease Company
United States
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bone Marrow Failure / Anemia Panel

Centogene US, LLC - The Rare Disease Company
United States
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCardio Panel

Centogene US, LLC - The Rare Disease Company
United States
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene US, LLC - The Rare Disease Company
United States
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene US, LLC - The Rare Disease Company
United States
829848
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene US, LLC - The Rare Disease Company
United States
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene US, LLC - The Rare Disease Company
United States
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Solid Tumor Panel

Centogene US, LLC - The Rare Disease Company
United States
218135
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 186

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.