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Results: 1 to 20 of 28

Tests names and labsConditionsGenes and analytesMethods

Chondrodysplasia punctata 1, X-linked recessive - Sanger / Del Dup Comprehensive

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

Chondrodysplasia punctata 1, X-linked recessive (CDPX1) - Deletion/Duplication

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

Chondrodysplasia punctata 1, X-linked recessive (CDPX1) - Sanger Sequencing

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

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Chondrodysplasia punctata, X-linked recessive

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

ARSE deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

ARSE sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Skeletal Disorders and Joint Problems Sequencing Panel

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

ARSE. Complete sequencing

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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1) via the ARSE Gene

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

CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Brachytelephalangic Chondrodysplasia Punctata , Sequencing ARSE Gene

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

Invitae ARSE-Related Chondrodysplasia Punctata Test

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

Skeletal dysplasias

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

Chondrodysplasia punctata 1, X-linked recessive: ARSE gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Chondrodysplasia punctata Panel

CeGaT GmbH
Germany
67
  • 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

Skeletal dysplasia (NGS panel for 31 genes)

CGC Genetics
Portugal
3331
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 28

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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