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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

PTH1R - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • 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

Abnormal Mineralization Panel

Centogene AG - the Rare Disease Company
Germany
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hypoparathyroidism Panel

Invitae
United States
4118
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LowBoneDensityZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11050
  • C Sequence analysis of the entire coding region

Metaphyseal chondrodysplasia, Murk Jansen type, 156400, Autosomal dominant (Metaphyseal chondrodysplasia, Jansen type) (PTH1R 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

Metaphyseal chondrodysplasia, Murk Jansen type, 156400, Autosomal dominant (Metaphyseal chondrodysplasia, Jansen type) (PTH1R 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

Metaphyseal chondrodysplasia, Jansen type Deletion / Duplication test

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

Metaphyseal chondrodysplasia, Jansen type NGS test

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

Metaphyseal chondrodysplasia, Jansen type Comprehensive test

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

Skeletal dysplasia extended Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2619
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasia core & extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
4629
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Skeletal dysplasia core & extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
4629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2619
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 40

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.