Clinical and research tests for C2677099 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Crouzon Syndrome with Acanthosis Nigricans Center for Genetics at Saint Francis Saint Francis Hospital United States	1	1	E Sequence analysis of select exons
FGFR3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis 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
Crouzon syndrome with acanthosis nigricans, 612247, Autosomal dominant; CAN (Crouzon syndrome-acanthosis nigricans syndrome) (FGFR3 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
Crouzon syndrome with acanthosis nigricans, 612247, Autosomal dominant; CAN (Crouzon syndrome-acanthosis nigricans syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Crouzon syndrome with acanthosis nigricans, 612247, Autosomal dominant; CAN (Crouzon syndrome-acanthosis nigricans syndrome) (FGFR3 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
Crouzon syndrome with acanthosis nigricans, 612247, Autosomal dominant; CAN (Crouzon syndrome-acanthosis nigricans syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SkeletalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	63	23	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
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	26	C Sequence analysis of the entire coding region T Targeted variant 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.