Filters

See more specimen types...

Other countries

Results: 1 to 20 of 36 (representing 17 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

Achondrogenesis, type IB - SLC26A2 - Sanger / Del Dup Comprehensive

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

Achondrogenesis, type IB (ACG1B) - Deletion/Duplication

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

Achondrogenesis, type IB (ACG1B) - Sanger Sequencing

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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
329300
  • C Sequence analysis of the entire coding region

Short Rib Skeletal Dysplasia Sequencing Panel

PreventionGenetics
United States
2419
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SLC26A2. Detection of the mutations pp.Arg279Trp, p.Cys653Ser, p.Arg178X and c.-26 2T>C by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
118
  • 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

Skeletal Dysplasia Panel

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

Multiple Epiphyseal Dysplasia Sequencing Panel

PreventionGenetics
United States
247
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Achondrogenesis Type 1B (ACG1B) 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

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

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • 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

COL2A1 related disorders

bio.logis Center for Human Genetics
Germany
141
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 36

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.

Support Center