Filters

See more specimen types...

Other countries

Results: 1 to 19 of 19 (representing 13 labs)

Tests names and labsConditionsGenes and analytesMethods

Spondyloenchondrodysplasia with immune dysregulation - Sanger / Del Dup Comprehensive

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

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) - Deletion/Duplication

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

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) - Sanger Sequencing

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

Spondyloenchondrodysplasia with immune dysregulation

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

ACP5. Complete sequencing

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

Spondyloenchondrodysplasia with Immune Dysregulation via the ACP5 Gene

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

ACP5

Institute for Human Genetics University Clinic Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Spondyloenchondrodysplasia with Immune Dysregulation, Sequencing ACP5 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Mendelian Susceptibility to Mycobacterial Disease Panel

Invitae
United States
3316
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Combined immunodeficiencies Panel

CeGaT GmbH
Germany
2360
  • -- Sequence analysis of the entire coding region

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel

CeGaT GmbH
Germany
2827
  • C Sequence analysis of the entire coding region

Spondyloenchondrodysplasia with immune dysregulation

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

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI, sequence analysis of ACP5 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

ACP5

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

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Disproportionate Short Stature: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19977
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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