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Results: 1 to 20 of 44

Tests names and labsConditionsGenes, analytes, and microbesMethods

CERS3 Gene Ichthyosis, congenital, autosomal recessive, type 9 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

CERS3 - NGS including CNV analysis

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

CentoSkin Panel

Centogene AG - the Rare Disease Company
Germany
157151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Ichthyosis Panel

Invitae
United States
7745
  • D Deletion/duplication analysis

Ichthyosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ichthyosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis, congenital, autosomal recessive 9, 615023, Autosomal recessive; ARCI9 (Congenital non-bullous ichthyosiform erythroderma) (CERS3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Ichthyosis, congenital, autosomal recessive 9, 615023, Autosomal recessive; ARCI9 (Congenital non-bullous ichthyosiform erythroderma) (CERS3 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Skin and Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
12569
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2028
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Ichthyosis and Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
157
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Congenital Ichthyosis Slice

GeneDx
United States
149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Results: 1 to 20 of 44

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.