Clinical and research tests for C5234850 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Craniodysmorphology Panel (FGFR1,2,3,TWIST) Center for Genetics at Saint Francis Saint Francis Hospital United States	8	4	E Sequence analysis of select exons T Targeted variant analysis
Craniodysmorphology Screen (Targeted FGFR1,2, and 3) Center for Genetics at Saint Francis Saint Francis Hospital United States	7	3	E Sequence analysis of select exons T Targeted variant analysis
Apert Syndrome (FGFR2 Single Gene Test) Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Facial Dysostosis and Related Disorders NGS Panel Fulgent Genetics United States	85	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cytochrome P450 Oxidoreductase Deficiency (POR Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kidney Dysplasia NGS Panel Fulgent Genetics United States	68	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beare-Stevenson Cutis Gyrata Syndrome (FGFR2 Single Gene Test) Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Adrenal Hyperplasia NGS Panel Fulgent Genetics United States	32	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Antley-Bixler syndrome Test Invitae United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	16	23	C Sequence analysis of the entire coding region
Craniosynostosis syndromes Panel CeGaT GmbH Germany	20	20	C Sequence analysis of the entire coding region
Antley-Bixler syndrome Bioarray Spain	1	1	D Deletion/duplication analysis
POR Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGFR2 Single Gene Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias NGS Panel Fulgent Genetics United States	543	178	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGFR-Related Craniosynostosis NGS Panel Fulgent Genetics United States	25	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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