Clinical and research tests for C0026985 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Calreticulin Exon 9 Mutation, JAK2 V617F Quant and Exons 12-15 and MPL Mutation Analysis PathGroup United States	9	3	T Targeted variant analysis
Calreticulin Exon 9 Mutation, MPL Mutation analysis and JAK2 Exons12-15 Mutation Analysis PathGroup United States	9	3	T Targeted variant analysis
Calreticulin Exon 9 Mutation and MPL Mutation analysis PathGroup United States	8	2	T Targeted variant analysis
Calreticulin Exon 9 Mutation, MPL and JAK2 V617F Quant PathGroup United States	9	3	T Targeted variant analysis
BCR CML IS_expanded JAK2 +V617F quant_CALR_MPL PathGroup United States	11	5	T Targeted variant analysis
BCR CML IS_JAK2_CALR_MPL PathGroup United States	11	5	T Targeted variant analysis
BCR/ABL, CALR, JAK2, MPL PathGroup United States	11	5	T Targeted variant analysis
BCR/ABL, CALR, expanded JAK2, MPL PathGroup United States	11	5	T Targeted variant analysis
BCR/ABL, expanded JAK2 PathGroup United States	11	3	T Targeted variant analysis
BCR/ABL, JAK2 V617F, MPL PathGroup United States	8	3	T Targeted variant analysis
BCR/ABL, expanded JAK2, MPL PathGroup United States	11	5	T Targeted variant analysis
Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States	29	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MPN Panel Molecular Oncology Laboratory, LabCorp United States	4	3	T Targeted variant analysis
CALR + MPL Reflex Molecular Oncology Laboratory, LabCorp United States	5	2	T Targeted variant analysis
JAK2V617F Mutation Analysis, Quantitative With Reflex to CALR Mutation Analysis, JAK2 Exon 12-15 Mutation Analysis and MPL Mutation Analysis Molecular Oncology Laboratory, LabCorp United States	4	3	T Targeted variant analysis
CALR+JAK2 E12-15+MPL Molecular Oncology Laboratory, LabCorp United States	5	3	T Targeted variant analysis
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Erythrocytosis NGS Panel Fulgent Genetics United States	61	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition Panel Genetic Services Laboratory University of Chicago United States	7	135	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SF3B1 Single Gene Fulgent Genetics United States	1	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.