Clinical and research tests for 142968 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HOXB1 Gene Facial paresis type 3 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	288	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
HOXB1 - 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
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Facial paresis, hereditary congenital, 3, 614744, Autosomal recessive; HCFP3 (Congenital hereditary facial paralysis with variable hearing loss) (HOXB1 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
Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel PreventionGenetics, part of Exact Sciences United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	180	C Sequence analysis of the entire coding region
Hearing loss Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Facial paresis, hereditary congenital, type 3 (sequence analysis of HOXB1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Inherited Loss of Hearing Panel Dhiti Omics Technologies Private Ltd India	8	179	C Sequence analysis of the entire coding region
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
Cranial dysinnervation disorders including Moebius syndrome Institute of Human Genetics Cologne University Germany	7	28	C Sequence analysis of the entire coding region
Retinal Dystrophy Xpanded Panel GeneDx United States	20	856	C Sequence analysis of the entire coding region
Facial paresis, hereditary congenital: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hearing Loss Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc United States	249	184	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss and Deafness Panel Blueprint Genetics Finland	8	179	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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