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Results: 1 to 20 of 24 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

SLC26A2. Complete sequencing

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

SLC26A2. Detection of the mutations p.Arg279Trp, c.-26 2T>C and p.Cys653Ser by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Skeletal Dysplasia Panel

Insight Medical Genetics
United States
278
  • X Mutation scanning of select exons

Multiple Epiphyseal Dysplasia Sequencing Panel

PreventionGenetics
United States
237
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple Epiphyseal Dysplasia, Recessive (EDM4/rMED) via the SLC26A2 Gene

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

Inheritest NGS, Comprehensive

Integrated Genetics Westborough Integrated Genetics
United States
136141
  • T Targeted variant analysis

Skeletal dysplasias

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
7936
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
77
  • C Sequence analysis of the entire coding region

Sulfate Transporter-Related Osteochondrodysplasias, includes Achondrogenesis Type 1B, Atelosteogenesis Type 2, Diastrophic Dysplasia, and Recessive Multiple Epiphyseal Dysplasia (SLC26A2)

Integrated Genetics Westborough Integrated Genetics
United States
41
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia and pseudoachondroplasia Panel

CeGaT GmbH
Germany
108
  • C Sequence analysis of the entire coding region

Achondrogenesis Ib

bio.logis Center for Human Genetics
Germany
41
  • C Sequence analysis of the entire coding region

SLC26A2 related disorders

bio.logis Center for Human Genetics
Germany
31
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia type 4

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

Single gene testing SLC26A2

CeGaT GmbH
Germany
41
  • C Sequence analysis of the entire coding region

SLC26A2

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
369161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple Epiphyseal Dysplasia NGS Panel

Fulgent Genetics
United States
297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
363163
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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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