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Results: 1 to 20 of 22 (representing 13 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

Anauxetic dysplasia - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Anauxetic dysplasia - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Anauxetic dysplasia - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID) Panel, Sequencing and Deletion/Duplication, 19 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
2319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RMRP Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

RMRP Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

RMRP Sequence Analysis

Baylor Genetics
United States
31
  • C Sequence analysis of the entire coding region

Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Severe Combined Immunodeficiency Panel

Invitae
United States
2818
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CCDC107

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • 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

RMRP Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
41
  • C Sequence analysis of the entire coding region

RMRP Gene Sequencing

GeneDx
United States
31
  • C Sequence analysis of the entire coding region

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel

CeGaT GmbH
Germany
2827
  • C Sequence analysis of the entire coding region

Cartilage-Hair Hypoplasia Dwarfism (RMRP) Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
31
  • T Targeted variant analysis

RMRP Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • D Deletion/duplication analysis

RMRP Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 22

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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