Clinical and research tests for GJB4 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GJB4 Gene Erythrokeratodermia variabilis et progressive NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	122	128	E Sequence analysis of select exons
GJB4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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
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
Erythrokeratodermia variabilis with erythema gyratum repens, 133200, Autosomal recessive, Autosomal dominant (Erythrokeratodermia variabilis) (GJB4 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
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
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
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
Hereditary ichthyosis (WES based NGS panel of 57 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	57	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Erythrokeratoderma variabilis progressiva (sequence analysis of GJB4 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region

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