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Results: 1 to 20 of 41

Tests names and labsConditionsGenes, analytes, and microbesMethods

Primordial Dwarfism Panel

Genetic Services Laboratory University of Chicago
United States
1832
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ORC4 - NGS including CNV analysis

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

CentoICU Panel

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

Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel

Invitae
United States
4838
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Microcephalic primordial dwarfism Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephalic primordial dwarfism NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Meier-Gorlin syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Meier-Gorlin syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephalic primordial dwarfism Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meier-Gorlin syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meier-Gorlin syndrome 2, 613800, Autosomal recessive; MGORS2 (Ear-patella-short stature syndrome) (ORC4 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

Meier-Gorlin syndrome 2, 613800, Autosomal recessive; MGORS2 (Ear-patella-short stature syndrome) (ORC4 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

Meier-Gorlin syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Meier-Gorlin syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephalic primordial dwarfism NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Meier-Gorlin syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Microcephalic primordial dwarfism Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microcephalic primordial dwarfism Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Meier-Gorlin Syndrome via the ORC4 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 41

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.