Clinical and research tests for 617050 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hermansky-Pudlak syndrome 10, 617050, Autosomal recessive; HPS10 (AP3D1 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
Hermansky-Pudlak syndrome 10, 617050, Autosomal recessive; HPS10 (AP3D1 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
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Congenital Neutropenia GenePanel Mayo Clinic Laboratories Mayo Clinic United States	46	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HLH Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AP3D1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Oculocutaneous Albinism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	28	22	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	83	46	D Deletion/duplication analysis
Invitae Phagocytic Disorders Including Neutropenia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Platelet Function Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	40	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	37	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Oculocutaneous Albinism and Hypopigmentation Panel PreventionGenetics, part of Exact Sciences United States	24	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Severe Congenital Neutropenia Panel PreventionGenetics, part of Exact Sciences United States	40	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hermansky-Pudlak Syndrome (HPS) Panel PreventionGenetics, part of Exact Sciences United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
AP3D1 - Genetic Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hermansky-Pudlak Syndrome Panel Versiti Diagnostic Laboratories Versiti, Inc United States	10	10	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.