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Results: 1 to 20 of 108 (representing 48 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

FoundationOne®

Foundation Medicine, Inc.
United States
1315
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

OmniSeq Comprehensive

OmniSeq OmniSeq, LLC
United States
1144
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
4062
  • C Sequence analysis of the entire coding region

Cancer Hotspot Panel

Centogene AG - the Rare Disease Company
Germany
4688
  • E Sequence analysis of select exons

Guardant360

Guardant Health
United States
168
  • E Sequence analysis of select exons

Kallmann syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kallmann syndrome type 2

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FGFR1 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
62
  • C Sequence analysis of the entire coding region

Kallmann Syndrome NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Panel for Individualized Cancer Threatment

GeneKor MSA
Greece
1652
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Facial Dysostosis Related Disorders NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
3319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis and Related Disorders NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
195
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniofacial Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2827
  • C Sequence analysis of the entire coding region

Holoprosencephaly Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
210
  • C Sequence analysis of the entire coding region

FGFR1 amplification FISH

Cancer Genetics, Inc.
United States
21
  • F Fluorescence in situ hybridization (FISH)

FGFR1. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

FGFR1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

FGFR1-Related Disorders via the FGFR1 Gene

PreventionGenetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 108

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.

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