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Results: 1 to 20 of 32

Tests names and labsConditionsGenes and analytesMethods

Osteopetrosis autosomal recessive type 4

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

Osteopetrosis NGS panel

Connective Tissue Gene Tests
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia Comprehensive panel

Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis Comprehensive panel

Connective Tissue Gene Tests
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia NGS panel

Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis Deletion / Duplication panel

Connective Tissue Gene Tests
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis core Comprehensive panel

Connective Tissue Gene Tests
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel

Connective Tissue Gene Tests
United States
3128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis core Deletion / Duplication panel

Connective Tissue Gene Tests
United States
43
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteopetrosis core NGS panel

Connective Tissue Gene Tests
United States
43
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis via CLCN7 Gene Sequencing with CNV Detection

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CLCN7. Complete sequencing

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

CLCN7 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
21
  • T Targeted variant analysis

CLCN7 Comprehensive - Sequence & Deletion/Duplication Analysis

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

CLCN7 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Osteopetrosis , Panel Massive Sequencing (NGS) 9 Genes

Reference Laboratory Genetics
Spain
109
  • C Sequence analysis of the entire coding region

OSTEOPETROSIS, AUTOSOMAL RECESSIVE

Laboratorio de Genetica Clinica SL
Spain
88
  • C Sequence analysis of the entire coding region

Autosomal Recessive Osteopetrosis Type 4 , Sequencing CLCN7 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

CLCN7 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 32

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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