Clinical and research tests for 601527 - 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
ALX1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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
Frontonasal dysplasia 3, 613456; FND3 (Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome) (ALX1 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 3, 613456; FND3 (Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome) (ALX1 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
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	110	45	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
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	161	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	130	81	D Deletion/duplication 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
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Craniofacial anomalies (deletion/duplication analysis on FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) CGC Genetics Unilabs Portugal	1	10	D Deletion/duplication analysis

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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.