Clinical and research tests for C0268125 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 44

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Purine Panel - Urine Baylor Genetics United States	7	8	A Analyte
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	41	60	C Sequence analysis of the entire coding region
PNP Gene Sequencing (2 day STAT TAT) Machaon Diagnostics United States	1	1	E Sequence analysis of select exons
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Duzen Laboratories Duzen BBAGUAS Turkey	1	1	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency Asper Biogene Asper Biogene LLC Estonia	61	43	C Sequence analysis of the entire coding region
Severe-Chronic EBV (CAEBV) Immunodeficiency Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	70	44	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency (SCID) Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	38	24	C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	19	18	C Sequence analysis of the entire coding region
Purine Nucleoside Phosphorylase Deficiency (PNP Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
B-Positive Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	38	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	330	90	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
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes Reference Laboratory Genetics Spain	16	18	C Sequence analysis of the entire coding region
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Purine Nucleoside Phosphorylase Deficiency, Sequencing PNP Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Combined immunodeficiencies Panel CeGaT GmbH Germany	23	60	C Sequence analysis of the entire coding region
Purine nucleoside phosphorylase deficiency Bioarray Spain	1	1	C Sequence analysis of the entire coding region
PNP Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
PNP Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 44

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.