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Results: 1 to 20 of 38 (representing 27 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • 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

Ichthyosis, X-linked

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

Constitutional Cytogenomic Microarray Analysis

Clinical Cytogenomics Laboratory University of Washington
United States
261
  • D Deletion/duplication analysis

X-linked ichthyosis FISH

Cytogenetics and Genomics Laboratory University of Washington
United States
11
  • M FISH-metaphase

STS. Complete sequencing

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

STS. MLPA testing

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

FISH, X-linked Ichthyosis Steroid Sulfatase Deficiency

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
11
  • M FISH-metaphase

Steroid Sulfatase Enzyme Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • E Enzyme assay

Steroid Sulfatase Enzyme Analysis

Baylor Genetics
United States
11
  • E Enzyme assay

Steroid Sulfatase Enzyme Analysis

Baylor Genetics
United States
11
  • E Enzyme assay

FISH, X-linked Ichthyosis Steroid Sulfatase Deficiency

Quest Diagnostics Nichols Institute Chantilly
United States
11
  • M FISH-metaphase

NEPHROTIC SYNDROME

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1515
  • C Sequence analysis of the entire coding region

Ichthyosis, X-linked

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

Ichthyoses and related disorders of cornification Panel

CeGaT GmbH
Germany
4265
  • C Sequence analysis of the entire coding region

STS

Division Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

X-linked ichthyosis , STS

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
11
  • D Deletion/duplication analysis

qChip

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

ICHTHYOSIS, X-LINKED (STS)

MVZ Dortmund Dr. Eberhard and Partner
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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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