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Results: 1 to 17 of 17 (representing 9 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Facial Dysostosis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1417
  • C Sequence analysis of the entire coding region

Short Rib Skeletal Dysplasia Sequencing Panel

PreventionGenetics
United States
2419
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
207
  • C Sequence analysis of the entire coding region

Skeletal dysplasias

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
7936
  • C Sequence analysis of the entire coding region

Weyers acrodental dysostosis (sequence analysis of EVC2 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal

ARUP Laboratories, Molecular Genetics and Genomics
United States
4839
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes)

ARUP Laboratories, Molecular Genetics and Genomics
United States
4839
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EVC

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ellis-Van Creveld Syndrome NGS Panel

Fulgent Genetics
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
364163
  • C Sequence analysis of the entire coding region

Disproportionate Short Stature: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
19977
  • C Sequence analysis of the entire coding region

Ciliopathies: Sequencing and Deletion/Duplication Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
165112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Hepatic Fibrosis NGS Panel

Fulgent Genetics
United States
4634
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ciliopathies NGS Panel

Fulgent Genetics
United States
15895
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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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