Clinical and research tests for 610460 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Thiopurines, poor metabolism of, 1, 610460, Autosomal recessive; THPM1 (Azathioprine or 6-mercatopurine toxicity or dose selection) (TPMT 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
Thiopurines, poor metabolism of, 1, 610460, Autosomal recessive; THPM1 (Azathioprine or 6-mercatopurine toxicity or dose selection) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hypophosphatemic rickets (sequence analysis of ENPP1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Thiopurine Methyltransferase (TPMT) and Nudix Hydrolase (NUDT15) Genotyping Mayo Clinic Laboratories Mayo Clinic United States	8	1	T Targeted variant analysis
Pharmacogenomics Profile + HLA AccessDx Lab LLC United States	71	38	D Deletion/duplication analysis T Targeted variant analysis
TPMT - Sanger sequencing Centogene AG - the Rare Disease Company Germany	1	1	C Sequence analysis of the entire coding region
Pharmacogenomics Test Panel IU Genetic Testing Laboratories Indiana University School of Medicine United States	8	13	T Targeted variant analysis
TPMT GENOTYPE Quest Diagnostics Nichols Institute San Juan Capistrano United States	5	1	T Targeted variant analysis
TPMT hypofunctional alleles Genetics Service Unit BRIC-National Institute of Biomedical Genomics India	1	1	T Targeted variant analysis
Thiopurine S-methyltransferase deficiency (sequence analysis of TPMT gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Thiopurine toxicity Detection of TPMT * 2, TPMT * 3A, TPMT * 3B, TPMT * 3C, TPMT * 4 alleles of the TPMT gene Genologica Medica Spain	1	1	C Sequence analysis of the entire coding region
Thiopurine Pharmacogenetics Test (TPMT Gene) Duzen Laboratories Duzen BBAGUAS Turkey	1	1	T Targeted variant analysis
TPMT genotyping Sinochips Diagnostics United States	4	1	T Targeted variant analysis
Thiopurines, poor metabolism of: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Thiopurine S-Methyltransferase Deficiency (TPMT Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Purine and Pyrimidine Metabolism Disorders Panel Blueprint Genetics Finland	15	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
THIOPURINE TOXICITY (TPMT) Laboratorio de Genetica Clinica SL Spain	1	1	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Thiopurine methyltransferase deficiency Labor Dr. Wisplinghoff Germany	1	1	C Sequence analysis of the entire coding region
TPMT Genotyping Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories United States	1	1	T Targeted variant analysis
Pharmacogenetic panel MVZ diagnosticum Frankfurt MVZ diagnosticum GmbH Germany	46	29	T Targeted variant analysis

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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.