Clinical and research tests for C4551486 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GJB3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	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 Comprehensive Deafness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	405	219	D Deletion/duplication 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
Erythrokeratodermia variabilis et progressiva, 133200, Autosomal recessive, Autosomal dominant (Erythrokeratodermia variabilis) (GJA1 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
Erythrokeratodermia variabilis et progressiva, 133200, Autosomal recessive, Autosomal dominant; EKVP (Erythrokeratodermia variabilis) (GJB3 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
Erythrokeratodermia variabilis et progressiva, 133200, Autosomal recessive, Autosomal dominant; EKVP (Erythrokeratodermia variabilis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Deafness, autosomal dominant, with peripheral neuropathy (GJB3 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
Deafness, autosomal dominant, with peripheral neuropathy (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	361	224	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
GJB3 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	3	1	D Deletion/duplication analysis
Autosomal Dominant Hearing Loss. 25-gene NGS panel. Genologica Medica Spain	48	23	C Sequence analysis of the entire coding region
Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain	58	31	C Sequence analysis of the entire coding region
Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain	146	94	C Sequence analysis of the entire coding region
Autosomal recessive hearing loss. 41-gene NGS panel. Genologica Medica Spain	65	41	C Sequence analysis of the entire coding region
Hearing Loss, Comprehensive Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	142	84	C Sequence analysis of the entire coding region
GJB3 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region

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