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Results: 1 to 20 of 27 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Osteopetrosis with renal tubular acidosis 3 - Sanger / Del Dup Comprehensive

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

Osteopetrosis with renal tubular acidosis 3 (OPTB3) - Deletion/Duplication

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

Osteopetrosis with renal tubular acidosis 3 (OPTB3) - Sanger Sequencing

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

Osteopetrosis type 3

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

Nephrolithiasis and Nephrocalcinosis Sequencing Panel

PreventionGenetics
United States
3330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Renal Tubular Acidosis Sequencing Panel

PreventionGenetics
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Osteopetrosis via the CA2 Gene

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

CA2. Complete sequencing

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

CA2 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

CA2 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CA2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CA2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
845637
  • D Deletion/duplication analysis

CA2 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • C Sequence analysis of the entire coding region

Osteopetrosis NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
109
  • C Sequence analysis of the entire coding region

BARTTER SYNDROME

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2927
  • C Sequence analysis of the entire coding region

Skeletal dysplasia with increased bone density Panel

CeGaT GmbH
Germany
2628
  • C Sequence analysis of the entire coding region

Osteopetrosis, autosomal recessive 3, with renal tubular acidosis

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Osteopetrosis type 3 (c.232+1G>A mutation on CA2 gene, arab mutation)

CGC Genetics
Portugal
11
  • T Targeted variant analysis

CA2 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 27

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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