Clinical and research tests for 139350 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
KRT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Ichthyosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	77	45	D Deletion/duplication analysis
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	95	45	D Deletion/duplication analysis
Ichthyosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ichthyosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	28	C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolytic hyperkeratosis, 113800, Autosomal recessive, Autosomal dominant; EHK (Epidermolytic ichthyosis) (KRT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Epidermolytic hyperkeratosis, 113800, Autosomal recessive, Autosomal dominant; EHK (Epidermolytic ichthyosis) (KRT1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Ichthyosis histrix, Curth-Macklin type, 146590, Autosomal dominant; IHCM (Ichthyosis hystrix of Curth-Macklin) (KRT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Keratosis palmoplantaris striata III, 607654; PPKS3 (Keratosis palmoplantaris striata) (KRT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602, Autosomal dominant (Epidermolytic ichthyosis) (KRT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Palmoplantar keratoderma, nonepidermolytic, 600962, Autosomal dominant; NEPPK (Thost-Unna palmoplantar keratoderma) (KRT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Palmoplantar keratoderma, epidermolytic, 144200, Autosomal dominant; EPPK (Epidermolytic palmoplantar keratoderma) (KRT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	124	69	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	20	28	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	20	28	C Sequence analysis of the entire coding region T Targeted variant analysis
Ichthyosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epidermolytic Hyperkeratosis via the KRT1 Gene PreventionGenetics, part of Exact Sciences United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.