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Results: 1 to 20 of 38

Tests names and labsConditionsGenes, analytes, and microbesMethods

CLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis NGS Genetic DNA Test

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

CLDN1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • 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

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Cholestasis Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626, Autosomal recessive; ILVASC (Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome) (CLDN1 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

Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626, Autosomal recessive; ILVASC (Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome) (CLDN1 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

Next Generation Sequencing for Jaundice Associated Genes Variation Test

National Taiwan University Hospital A1 Center National Taiwan University Hospital
Taiwan
473
  • C Sequence analysis of the entire coding region

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

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

Ichthyosis and Ectodermal Dysplasia Panel

Mendelics
Brazil
258
  • C Sequence analysis of the entire coding region

ICHTHYOSIFORM ERYTHRODERMA CONGENITAL EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
160
  • E Sequence analysis of select exons

ICTHYOSIS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
160
  • E Sequence analysis of select exons

Amelogenesis

Bioarray
Spain
1172
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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.