Clinical and research tests for C1852406 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 42

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Beare-Stevenson cutis gyrata syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
FGFR 2 sequencing Duzen Laboratories Duzen BBAGUAS Turkey	5	1	C Sequence analysis of the entire coding region
FGFR2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	9	1	D Deletion/duplication analysis
Beare-Stevenson with cutis gyrata: FGFR2 Targeted Analysis Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	1	1	E Sequence analysis of select exons
Custom XomeDx Slice – Differences of Sex Development (Proband Only) GeneDx United States	21	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGFR2 Institute for Human Genetics University Medical Center Freiburg Germany	11	1	C Sequence analysis of the entire coding region
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
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
FGFR2-related craniosynostosis: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	1	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
Invitae Craniosynostosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	14	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing FGFR2 CeGaT GmbH Germany	11	1	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	557	182	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	5130	4674	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

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Results: 21 to 40 of 42

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.