U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

PREVENTEST

GeneID Lab - Advanced Molecular Diagnostics
United States
6034
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qChip 60k prenatal

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

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

AKT1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ColoGene

GeneID Lab - Advanced Molecular Diagnostics
United States
4119
  • C Sequence analysis of the entire coding region

Proteus syndrome, somatic, 176920 (Proteus syndrome) (AKT1 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

qChip 180

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

Segmental Overgrowth Disorders - NGS panel

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
413
  • C Sequence analysis of the entire coding region

PTEN Sequencing and Deletion/Duplication on Blood

UAB Medical Genomics Laboratory UAB Medicine
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Somatic Overgrowth and Vascular Malformations Gene Panel

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
934
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Vascular Malformations Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2428
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PTEN Hamartoma Tumur Syndrome (PHTS)

Genetic Pathology SA Pathology
Australia
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cortical Malformations and Epilepsy Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
3539
  • C Sequence analysis of the entire coding region

Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel.

Genologica Medica
Spain
8843
  • C Sequence analysis of the entire coding region

Somatic vascular gene panel (20 genes)

Center for Human Genetics Cliniques Universitaires Saint Luc
Belgium
1220
  • E Sequence analysis of select exons

AKT1

Institute for Human Genetics University Medical Center Freiburg
Germany
51
  • C Sequence analysis of the entire coding region

Proteus Syndrome (AKT1 Single Gene Test)

Fulgent Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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.