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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FGFR2-Related disorders - Sequencing Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado United States	11	1	C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	374	169	C Sequence analysis of the entire coding region
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 – Disorders of Sex Development (Proband Only) GeneDx United States	21	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clefting (WES based NGS panel of 231 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	410	231	C Sequence analysis of the entire coding region
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	295	141	C Sequence analysis of the entire coding region
Pfeiffer syndrome (sequence analysis of FGFR1 and FGFR2 genes) Unilabs Genetics CGC Genetics Portugal	15	2	C Sequence analysis of the entire coding region
Craniosynostosis (NGS panel for 5 genes, PND) Unilabs Genetics CGC Genetics Portugal	31	5	C Sequence analysis of the entire coding region
Male Infertility (WES based NGS panel of 116 gene, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	161	116	C Sequence analysis of the entire coding region
Septooptic dysplasia (WES based NGS panel of 17 gene, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	39	17	C Sequence analysis of the entire coding region
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	163	69	C Sequence analysis of the entire coding region
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	451	240	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) Unilabs Genetics CGC Genetics Portugal	41	10	D Deletion/duplication analysis
Crouzon syndrome ; Pfeiffer syndrome ; Apert syndrome ; Saethre-Chotzen syndrome ; Jackson-Weiss syndrome ; Antley-Bixler syndrome ; Beare-Stevenson syndrome ; LADD syndrome ; Bent bone dysplasia (sequence analysis of FGFR2 gene) Unilabs Genetics CGC Genetics Portugal	11	1	C Sequence analysis of the entire coding region
Nonsyndromic 46,XY woman (NGS panel of 9 genes) Unilabs Genetics CGC Genetics Portugal	24	9	C Sequence analysis of the entire coding region

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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.