Clinical and research tests for C0220658 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pfeiffer syndrome, 101600, autosomal dominant (Pfeiffer syndrome) (FGFR2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Craniofacial-skeletal-dermatologic dysplasia, 101600, Autosomal dominant (Pfeiffer syndrome) (FGFR2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Craniofacial-skeletal-dermatologic dysplasia, 101600, Autosomal dominant (Pfeiffer syndrome) (FGFR2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Syndactyly Panel PreventionGenetics 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 Hospital United States	64	23	C Sequence analysis of the entire coding region
CraniofacialZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	45	C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	526	339	C Sequence analysis of the entire coding region
Cleft Lip/Cleft Palate Panel PreventionGenetics United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics 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
Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
Short Rib Skeletal Dysplasia Panel PreventionGenetics United States	24	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Facial Dysostosis Related Disorders Panel PreventionGenetics United States	33	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis and Related Disorders Panel PreventionGenetics United States	19	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. Complete sequencing by NGS IGENOMIX Spain	20	7	C Sequence analysis of the entire coding region
FGFR2-Related Disorders via the FGFR2 Gene PreventionGenetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
FGFR1-Related Disorders via the FGFR1 Gene PreventionGenetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region 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

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Results: 21 to 40 of 129

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.