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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

Solid Tumor Panel

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

PIK3CA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hydrocephalus Panel

PreventionGenetics, part of Exact Sciences
United States
4037
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly Panel

PreventionGenetics, part of Exact Sciences
United States
231139
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; MCAP (Megalencephaly-capillary malformation-polymicrogyria syndrome) (PIK3CA 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

Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; MCAP (Megalencephaly-capillary malformation-polymicrogyria syndrome) (PIK3CA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Wilms Tumor Panel

PreventionGenetics, part of Exact Sciences
United States
4828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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

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

Cortical Malformations and Epilepsy Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
3538
  • C Sequence analysis of the entire coding region

Vascular malformations panel. 14-gene NGS panel.

Genologica Medica
Spain
3814
  • C Sequence analysis of the entire coding region

Lymphatic malformations and related disorders panel. NGS panel of 11 genes.

Genologica Medica
Spain
3111
  • C Sequence analysis of the entire coding region

Molecular profile of the breast tumor. Panel NGS genes: BRCA1, BRCA2, ERBB2, PIK3CA.

Genologica Medica
Spain
214
  • 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

Neuronal migration disorder panel. NGS panel of 58 genes.

Genologica Medica
Spain
11057
  • C Sequence analysis of the entire coding region

Polymicrogyria (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
766
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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.