Clinical and research tests for C0751254 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PRNP - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	6	1	T Targeted variant analysis
PRNP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	72	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Creutzfeldt-Jakob disease, 123400, Autosomal dominant (Sporadic Creutzfeldt-Jakob disease) (PRNP gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Creutzfeldt-Jakob disease, 123400, Autosomal dominant (Sporadic Creutzfeldt-Jakob disease) (PRNP 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
Creutzfeldt-Jakob disease, variant, resistance to, 123400, Autosomal dominant; CJD (Sporadic Creutzfeldt-Jakob disease) (HLA-DQB1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Creutzfeldt-Jakob disease, variant, resistance to, 123400, Autosomal dominant; CJD (Sporadic Creutzfeldt-Jakob disease) (HLA-DQB1 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
Alzheimer's panel Genologica Medica Spain	25	10	C Sequence analysis of the entire coding region
Dementia panel. NGS panel of 21 genes. Genologica Medica Spain	44	21	C Sequence analysis of the entire coding region
Familial Amyloidosis Genologica Medica Spain	44	19	C Sequence analysis of the entire coding region
Alzheimer's panel. NGS panel of 10 genes. Genologica Medica Spain	25	10	C Sequence analysis of the entire coding region
Prion Disease Genetic Analysis Duzen Laboratories Duzen BBAGUAS Turkey	3	1	C Sequence analysis of the entire coding region
PRNP - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	6	1	C Sequence analysis of the entire coding region
Prion Disease (PRNP Single Gene Test) Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CREUZTFELDT-JACOB DISEASE Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Invitae Hereditary Prion Disease Test Labcorp Genetics (formerly Invitae) LabCorp United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontotemporal Dementia Asper Biogene Asper Biogene LLC Estonia	29	20	C Sequence analysis of the entire coding region
Creutzfeldt-Jakob disease Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing PRNP CeGaT GmbH Germany	5	1	C Sequence analysis of the entire coding region
Dementia all Panel CeGaT GmbH Germany	32	36	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.