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Results: 1 to 20 of 46 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

Rhizomelic Chondrodysplasia Punctata Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
33
  • C Sequence analysis of the entire coding region

red blood cell plasmalogens

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
43
  • A Analyte

Phytanic acid oxidase (cultured cells)

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
41
  • E Enzyme assay

Rhizomelic chondrodysplasia punctata type 1 - Sanger / Del Dup Comprehensive

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

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) - Deletion/Duplication

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

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) - Sanger Sequencing

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

plasma very long chain fatty acids, phytanic and pristanic

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
43
  • A Analyte

peroxisomal plasmalogen synthesis (cultured cells)

Genetics Laboratory, Peroxisomal Disorders Section Kennedy Krieger Institute
United States
41
  • E Enzyme assay

Peroxisomal Disorders Sequencing Panel

PreventionGenetics
United States
3222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Rhizomelic Chondrodysplasia Punctata Type 1 and Adult Refsum Disease via the PEX7 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PEX7. Complete sequencing

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

PEX7. Detection of the mutations p.Leu292X, p.Gly217Arg and p.Ala218Val by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

nucSEEKĀ® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Family Prep Screen

Counsyl
United States
112110
  • 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

Rhizomelic Chondrodysplasia Punctata Type 1 (PEX7)

Integrated Genetics Westborough Integrated Genetics
United States
11
  • C Sequence analysis of the entire coding region

Inheritest Carrier Screen

Integrated Genetics Westborough Integrated Genetics
United States
9287
  • T Targeted variant analysis

CarrierMap

Recombine
United States
300298
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Chondrodysplasia punctata Panel

CeGaT GmbH
Germany
67
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

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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