Clinical and research tests for C0085261 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
qChip 1M Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k post-natal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 400 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
PREVENTEST GeneID Lab - Advanced Molecular Diagnostics United States	60	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
AKT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ColoGene GeneID Lab - Advanced Molecular Diagnostics United States	41	19	C Sequence analysis of the entire coding region
Proteus syndrome, somatic, 176920 (Proteus syndrome) (AKT1 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
qChip 180 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Segmental Overgrowth Disorders - NGS panel Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	4	13	C Sequence analysis of the entire coding region
PTEN Sequencing and Deletion/Duplication on Blood Medical Genomics Laboratory Department of Genetics UAB United States	5	1	D Deletion/duplication analysis 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
Vascular Malformations Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	24	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PTEN Hamartoma Tumur Syndrome (PHTS) Genetic Pathology SA Pathology Australia	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cortical Malformations and Epilepsy Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	35	39	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
Somatic vascular gene panel (20 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	12	20	E Sequence analysis of select exons
AKT1 Institute for Human Genetics University Medical Center Freiburg Germany	5	1	C Sequence analysis of the entire coding region
Proteus Syndrome (AKT1 Single Gene Test) Fulgent Genetics United States	5	1	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.