Clinical and research tests for KRT81 OR KRT83 OR KRT86 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
ECTODERMAL DYSPLASIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	110	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	C Sequence analysis of the entire coding region
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel CeGaT GmbH Germany	29	55	C Sequence analysis of the entire coding region
Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	42	C Sequence analysis of the entire coding region
Monilethrix, 158000, Autosomal dominant (Monilethrix) (KRT81 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
Monilethrix, 158000, Autosomal dominant (Monilethrix) (KRT83 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
Monilethrix, 158000, Autosomal dominant; MNLIX (Monilethrix) (KRT86 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
Erythrokeratodermias and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	7	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	7	7	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	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiXpanded Panel GeneDx United States	1	1501	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KRT81 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
KRT83 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
KRT86 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Erythrokeratodermia variabilis et progressiva: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region

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