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Results: 1 to 20 of 38

Tests names and labsConditionsGenes, analytes, and microbesMethods

CCN6 - NGS including CNV analysis

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

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Arthropathy, progressive pseudorheumatoid, of childhood, 208230, Autosomal recessive; PPAC (Progressive pseudorheumatoid arthropathy of childhood) (WISP3 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

Arthropathy, progressive pseudorheumatoid, of childhood, 208230, Autosomal recessive; PPAC (Progressive pseudorheumatoid arthropathy of childhood) (WISP3 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

Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230, Autosomal recessive (Progressive pseudorheumatoid arthropathy of childhood) (WISP3 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

Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230, Autosomal recessive (Progressive pseudorheumatoid arthropathy of childhood) (WISP3 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

Progressive pseudorheumatoid arthropathy of childhood Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progressive pseudorheumatoid arthropathy of childhood Sequencing test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Progressive pseudorheumatoid arthropathy of childhood Deletion / Duplication test

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

Spondylo-Epi-Metaphyseal dysplasias NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel.

Genologica Medica
Spain
6928
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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.