Clinical and research tests for C0022595 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ATP2A2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Darier disease, 124200, Autosomal dominant; DAR (Darier disease) (ATP2A2 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
Darier disease, 124200, Autosomal dominant; DAR (Darier disease) (ATP2A2 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
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Darier-White disease Comprehensive HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Darier-White disease Deletion / Duplication HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Darier-White disease HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Darier disease: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Ichthyosis Asper Biogene Asper Biogene LLC Estonia	67	47	C Sequence analysis of the entire coding region
ATP2A2 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adolescent/Adult Epilepsy NGS Panel Fulgent Genetics United States	182	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Darier Disease (ATP2A2 Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Athena Diagnostics Inc United States	30	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Darier-White Disease, Sequencing ATP2A2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
DARIER-WHITE DISEASE Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	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.