Clinical and research tests for C2752042 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PIK3CA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CLOVE syndrome, somatic, 612918 (CLOVES syndrome) (PIK3CA 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
CLOVE syndrome, somatic, 612918 (CLOVES syndrome) (PIK3CA gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI (CLOVES syndrome) (PIK3CA gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Wilms Tumor Panel PreventionGenetics, part of Exact Sciences United States	48	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PIK3CA variant detection Laboratory for Molecular Pediatric Pathology Boston Children's Hospital United States	3	1	T Targeted variant analysis
Segmental Overgrowth Disorders - NGS panel Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	4	13	C Sequence analysis of the entire coding region
Somatic Overgrowth and Vascular Malformations Gene Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	9	34	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Lymphedema Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	15	7	C Sequence analysis of the entire coding region
Vascular malformations panel. 14-gene NGS panel. Genologica Medica Spain	38	14	C Sequence analysis of the entire coding region
Lymphatic malformations and related disorders panel. NGS panel of 11 genes. Genologica Medica Spain	31	11	C Sequence analysis of the entire coding region
Molecular profile of the breast tumor. Panel NGS genes: BRCA1, BRCA2, ERBB2, PIK3CA. Genologica Medica Spain	21	4	C Sequence analysis of the entire coding region
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	C Sequence analysis of the entire coding region
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain	110	57	C Sequence analysis of the entire coding region
Lymphedema Sequencing Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	29	25	C Sequence analysis of the entire coding region
Vascular Anomalies (VANseq) Expanded Del/Dup Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	D Deletion/duplication analysis
Vascular Anomalies (VANseq) Expanded Sequencing Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	C Sequence analysis of the entire coding region
PIK3CA Institute for Human Genetics University Medical Center Freiburg Germany	13	1	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.