Filters

See more specimen types...
See more states

Other countries

Results: 1 to 20 of 41 (representing 30 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
  • 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 Center for Precision Diagnostics, 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 Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Enzyme assay

Steroid Sulfatase Enzyme Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Enzyme assay

Steroid Sulfatase Enzyme Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • E Enzyme assay

FISH, X-linked Ichthyosis Steroid Sulfatase Deficiency

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

Hereditary ichthyosis (NGS panel of 53 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Hereditary ichthyosis (NGS panel of 53 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

X-Linked Ichthyosis , Deletions-Duplications (MLPA) STS Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

X-Linked Ichthyosis , Sequencing STS Gene

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

ICHTHYOSIS (X-LINKED)

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

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

Results: 1 to 20 of 41

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.

Support Center