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Results: 21 to 40 of 147

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Fusion Analysis

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
1115
  • R RNA analysis

Soft Tissue Sarcoma Tumor Analysis, Fusion Detection by RT-PCR

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
112
  • R RNA analysis

FOXO1 (FKHR) Rearrangement Detection by FISH

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
13
  • M FISH-metaphase

MayoComplete Solid Tumor Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1476
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Invitae Hypopigmentation Panel

Invitae
United States
8346
  • D Deletion/duplication analysis

JAX SOMASEQ

The Jackson Laboratory for Genomic Medicine
United States
1517
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

OmniSeq INSIGHT

OmniSeq, Inc.
United States
1525
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication 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

FusionPlex Solid Tumor Panel

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
3114
  • R RNA analysis

Rhabdomyosarcoma 2, alveolar, 268220, Autosomal recessive (Rhabdomyosarcoma) (MLPA)

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

Rhabdomyosarcoma 2, alveolar, 268220, Autosomal recessive (Rhabdomyosarcoma) (PAX3 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

Waardenburg syndrome, type 1, 193500, Autosomal dominant; WS1 (Waardenburg syndrome type 1) (Prenatal) (MLPA)

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

Waardenburg syndrome, type 3, 148820, Autosomal recessive, Autosomal dominant; WS3 (Waardenburg syndrome type 3) (MLPA)

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

Waardenburg syndrome, type 3, 148820, Autosomal recessive, Autosomal dominant; WS3 (Waardenburg syndrome type 3) (PAX3 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

Waardenburg syndrome, type 1, 193500, Autosomal dominant; WS1 (Waardenburg syndrome type 1) (PAX3 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

Waardenburg syndrome, type 1, 193500, Autosomal dominant; WS1 (Waardenburg syndrome type 1) (PAX3 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

Waardenburg syndrome, type 1, 193500, Autosomal dominant; WS1 (Waardenburg syndrome type 1) (MLPA)

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

Results: 21 to 40 of 147

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.