Clinical and research tests for C5574965 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Facial Dysostosis Panel Genetic Services Laboratory University of Chicago United States	14	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	44	28	D Deletion/duplication analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia 1, 136760, Autosomal recessive; FND1 (Frontorhiny) (ALX3 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
Frontonasal dysplasia 1, 136760, Autosomal recessive; FND1 (Frontorhiny) (ALX3 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
Frontonasal dysplasia and Craniofrontonasal syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontonasal dysplasia and Craniofrontonasal syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontonasal Dysplasia (Frontorhiny) via the ALX3 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniofacial Panel Genetic Services Laboratory University of Chicago United States	31	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
Frontonasal dysplasia 1 (sequence analysis of ALX3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Panel of facial dysostosis and related disorders. NGS panel of 26 genes. Genologica Medica Spain	35	26	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	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.