Clinical and research tests for C3554574 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Common Hereditary Cancer Screening Panel PreventionGenetics, part of Exact Sciences United States	94	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	156	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Telomere Biology Disorders Panel Invitae United States	22	13	D Deletion/duplication analysis
Invitae Surfactant Metabolism Panel Invitae United States	40	19	D Deletion/duplication analysis
Invitae Hypopigmentation Panel Invitae United States	83	46	D Deletion/duplication analysis
Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neonatal Respiratory Distress Panel Invitae United States	163	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Melanoma, cutaneous malignant, 9, 615134; CMM9 (Familial melanoma) (TERT 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
Melanoma, cutaneous malignant, 9, 615134; CMM9 (Familial melanoma) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
Melanoma Cancer Panel IntelligeneCG LLC United States	13	9	C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	C Sequence analysis of the entire coding region
TeloZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	24	15	C Sequence analysis of the entire coding region
Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	125	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TERT/TERC gene sequence and deletion/duplication Ambry Genetics United States	6	2	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.