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Results: 1 to 20 of 30 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

Focal dermal hypoplasia - Sanger / Del Dup Comprehensive

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

Focal dermal hypoplasia (FDH) - Deletion/Duplication

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

Focal dermal hypoplasia (FDH) - 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

Focal dermal hypoplasia

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

PORCN. Complete sequencing

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

PORCN Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

PORCN Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

PORCN Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

Focal Dermal Hypoplasia (FDH) via the PORCN Gene

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

X-chromosome High Resolution microarray analysis

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

PORCN mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Goltz Syndrome, Sequencing PORCN Gene

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

FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME)

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

Anophthalmia/microphthalmia

Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
Denmark
1129
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
134136
  • C Sequence analysis of the entire coding region

Anterior segment defects

Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
Denmark
1213
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Goltz Gorlin Syndrome

bio.logis Center for Human Genetics
Germany
11
  • C Sequence analysis of the entire coding region

Focal dermal hypoplasia

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

Gorlin-Goltz syndrome (deletion/duplication analysis of PTCH1 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Results: 1 to 20 of 30

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