Clinical and research tests for PLCB4 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
PLCB4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Invitae United States	44	28	D Deletion/duplication analysis
Auriculocondylar syndrome 2, 614669, Autosomal recessive, Autosomal dominant; ARCND2 (Auriculocondylar syndrome) (PLCB4 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
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PLCB4 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Hearing loss Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Auriculocondylar syndrome 2 (sequence analysis of PLCB4 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniofacial panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	48	48	C Sequence analysis of the entire coding region
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	C Sequence analysis of the entire coding region
Auriculocondylar syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region
Mental retardation - different panels Institute of Human Genetics Cologne University Germany	7	2536	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniofacial Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	47	44	D Deletion/duplication analysis 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.