Clinical and research tests for C0024899 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Hypopigmentation Panel Invitae United States	83	46	D Deletion/duplication analysis
Mast cell disease, 154800, Autosomal dominant (Maculopapular cutaneous mastocytosis) (KIT 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
BRAF, NRAS, KIT Mutation Analysis PathGroup United States	16	3	T Targeted variant analysis
PrimBio Cancer HotSpot Panel PrimBio Research Institute United States	60	50	T Targeted variant analysis
GIST, Acute myeloid leukemia , Mast cell leukemia , Melanoma (sequence analysis of 8, 9, 10, 11, 13, 17 and 18 exons of KIT gene) CGC Genetics Unilabs Portugal	5	1	E Sequence analysis of select exons
Molecular profile of the tumor in melanoma. Panel NGS genes: BRAF, KIT, NRAS. Genologica Medica Spain	17	3	C Sequence analysis of the entire coding region
Neurofibromatosis panel. 8-gene NGS panel. Genologica Medica Spain	25	8	C Sequence analysis of the entire coding region
KIT (D816V) Digital PCR Molecular Oncology Laboratory, LabCorp United States	3	1	T Targeted variant analysis
KIT (D816V) Mutation by ddPCR, Quantitative ARUP Laboratories, Molecular Oncology ARUP Laboratories United States	1	1	T Targeted variant analysis
KIT (D816V) Mutation by PCR Baylor Genetics United States	1	1	T Targeted variant analysis
c-KIT Mutation Analysis in Tumors of Hematopoietic Tissue Molecular Oncology Laboratory, LabCorp United States	3	1	T Targeted variant analysis
Cutaneous mastocytosis Defense Health Agency Genetics Reference Laboratory United States Air Force United States	1	1	C Sequence analysis of the entire coding region
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Reference Laboratory Genetics Spain	126	90	C Sequence analysis of the entire coding region
MASTOCYTOSIS (Gleevec treatment) Laboratorio de Genetica Clinica SL Spain	1	1	E Sequence analysis of select exons
SYSTEMIC MASTOCYTOSIS Laboratorio de Genetica Clinica SL Spain	1	1	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Sarcoma Comprehensive Panel Fulgent Genetics United States	70	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gastric Cancer Comprehensive Panel Fulgent Genetics United States	37	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Full Comprehensive Cancer Panel Fulgent Genetics United States	329	127	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KIT Mutation Analysis Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories United States	5	1	D Deletion/duplication analysis E Sequence analysis of select exons T Targeted variant analysis
KIT Single Gene Fulgent Genetics United States	4	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.