Clinical and research tests for TXNL4A - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Treacher Collins syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Treacher Collins syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Treacher Collins syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Burn-McKeown syndrome, 608572, Autosomal recessive; BMKS (Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome) (TXNL4A 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
Burn-McKeown syndrome, 608572, Autosomal recessive; BMKS (Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome) (TXNL4A 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
Treacher Collins syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Treacher Collins syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Treacher Collins syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	9	9	C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	231	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Treacher Collins Syndrome and Mandibulofacial Dysostosis Gene Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	13	10	C Sequence analysis of the entire coding region
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Treacher-Collins syndrome panel Genologica Medica Spain	6	6	C Sequence analysis of the entire coding region
Treacher-Collins syndrome panel. 7-gene NGS panel. Genologica Medica Spain	6	6	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
Burn-McKeown Syndrome (TXNL4A Single Gene Test) Fulgent Genetics United States	30	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Burn-McKeown Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region

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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.