Clinical and research tests for C1328840 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 46

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	22	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	226	154	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	603	446	D Deletion/duplication analysis
Autoimmune Lymphoproliferative Syndrome via the FAS Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hemophagocytic lymphohistiocytosis panel. NGS panel of 15 genes. Genologica Medica Spain	19	15	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
Severe-Chronic EBV (CAEBV) Immunodeficiency Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	70	44	C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE Laboratorio de Genetica Clinica SL Spain	4	5	C Sequence analysis of the entire coding region
PRKCD Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences Iran	1	1	S Mutation scanning of the entire coding region
Immune dysregulation Panel CeGaT GmbH Germany	13	22	C Sequence analysis of the entire coding region
Single gene testing FAS CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Autoimmune lymphoproliferative syndrome type 1A Bioarray Spain	1	1	C Sequence analysis of the entire coding region
KRAS Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
KRAS Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
FAS Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
FAS Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FASLG Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing Genomic Research Center Shahid Beheshti University of Medical Sciences Iran	1	1	S Mutation scanning of the entire coding region

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Results: 21 to 40 of 46

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.