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Results: 1 to 20 of 39

Tests names and labsConditionsGenes and analytesMethods

Campomelic dysplasia - Sanger / Del Dup Comprehensive

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

Campomelic dysplasia (CMPD) - Deletion/Duplication

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

Campomelic dysplasia (CMPD) - 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
  • H Detection of homozygosity
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Campomelic dysplasia

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

SOX9 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
11
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

SOX9. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

SOX9. Complete sequencing

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

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

Skeletal Dysplasia Panel

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

Campomelic Dysplasia with Autosomal Sex Reversal - SOX9 Sequencing

Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • 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

Exome

DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA.
Brazil
5968
  • T Targeted variant analysis

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • C Sequence analysis of the entire coding region

Campomelic dysplasia

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

Campomelic dysplasia

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

Campomelic dysplasia (sequence analysis of SOX9 gene)

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

Campomelic dysplasia (deletion/duplication analysis of SOX9 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Skeletal dysplasia (NGS panel for 31 genes)

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

Results: 1 to 20 of 39

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.