Clinical and research tests for PEX39 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 19320

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
M Beacon Focus B; 14 Genes Fulgent Genetics United States	17	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Carrier Screen; 3 Genes Fulgent Genetics United States	5	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Carrier Screen; 2 Genes Fulgent Genetics United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Whole Exome Fulgent Genetics United States	1	1	C Sequence analysis of the entire coding region
Beacon Ashkenazi Jewish Male Carrier Screening Panel Fulgent Genetics United States	145	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NUDT15 Genotyping (Thiopurine Tolerance) Fulgent Genetics United States	1	1	T Targeted variant analysis
Ashkenazi Jewish Breast Cancer Test Fulgent Genetics United States	10	2	T Targeted variant analysis
Hyperlipidemia NGS Panel Fulgent Genetics United States	19	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Branchio-Oculo-Facial Syndrome (TFAP2A Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States	93	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Knobloch Syndrome (COL18A1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypochromic Microcytic Anemia With Iron Overload (SLC11A2 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Prekallikrein Deficiency (KLKB1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Riboflavin Transporter Deficiency Neuronopathy NGS Panel Fulgent Genetics United States	48	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypomyelination And Congenital Cataract (FAM126A Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PPM-X Syndrome (MECP2 Single Gene Test) Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dubin-Johnson Syndrome (ABCC2 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fukuyama Congenital Muscular Dystrophy (FKTN Single Gene Test) Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Acral Peeling Skin Syndrome (TGM5 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leydig Cell Hypoplasia (LHCGR Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 1 to 20 of 19320

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.