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Results: 1 to 20 of 99

Tests names and labsConditionsGenes, analytes, and microbesMethods

Schwannomatosis Panel on Tumor Block

UAB Medical Genomics Laboratory UAB Medicine
United States
23
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FAMILIAL SCHWANNOMATOSI - SMARCB1/INI1 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
23
  • D Deletion/duplication analysis
  • L Linkage analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

NEUROFIBROMATOSI DE TYPE 2 - NF2 gene

Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol
Spain
33
  • D Deletion/duplication analysis
  • L Linkage analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

CNS tumour panel (20 genes)

Molecular Genetics Laboratory North York General Hospital
Canada
1920
  • 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

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
155107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

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

NF2 - MLPA

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis

NF2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMARCB1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Multi-Cancer + RNA Panel

Invitae
United States
14263
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Congenital Diaphragmatic Hernia Panel

PreventionGenetics, part of Exact Sciences
United States
11665
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan spectrum disorder Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Noonan spectrum disorder Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan spectrum disorder NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3125
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Schwannomatosis, 162091, Autosomal dominant; SWNTS1 (Neurofibromatosis type 3) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Results: 1 to 20 of 99

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.