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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

Monilethrix, 158000, Autosomal dominant (Monilethrix) (KRT83 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

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Erythrokeratodermias and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Erythrokeratodermias and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Erythrokeratodermias and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
77
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ectodermal Dysplasia and Related Disorders Panel

Invitae
United States
14873
  • D Deletion/duplication analysis

Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
142
  • C Sequence analysis of the entire coding region

Dermatology Panel 

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

ECTODERMAL DYSPLASIA EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1110
  • E Sequence analysis of select exons

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

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KRT83

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Erythrokeratodermia variabilis et progressiva: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel

CeGaT GmbH
Germany
2955
  • C Sequence analysis of the entire coding region

KRT83 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.