Clinical and research tests for 6908 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ataxia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	199	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FTD and ALS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
TATA box binding protein (TBP) gene CAG/CAA repeat test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	1	1	T Targeted variant analysis
TBP - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	2	1	T Targeted variant analysis
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Repeat Expansion Panel Centogene AG - the Rare Disease Company Germany	13	13	T Targeted variant analysis
Spinocerebellar ataxia 17, 607136, Autosomal dominant (Spinocerebellar ataxia type 17)(Repeat Analysis) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	T Targeted variant analysis
Parkinson disease, susceptibility to, 168600, Isolated cases, Multifactorial (Spinocerebellar ataxia type 17) (TBP 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
Genomic UnityⓇ Ataxia Repeat Expansion Analysis (STR analysis of 16 loci) Variantyx, Inc. United States	15	13	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Genomic UnityⓇ Comprehensive Ataxia Analysis (includes STR analysis of 16 loci) Variantyx, Inc. United States	52	53	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Spinocerebellar Ataxia Type 17 via the TBP CAG/CAA Repeat Expansion PreventionGenetics, part of Exact Sciences United States	1	1	T Targeted variant analysis
Ataxia Repeat Expansion Panel Genetic Services Laboratory University of Chicago United States	14	14	X Mutation scanning of select exons
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Spinocerebellar ataxia 17 (SCA17, CAG expansion on TBP gene) CGC Genetics Unilabs Portugal	1	1	T Targeted variant analysis
Spinocerebellar ataxia panel: SCA8, SCA10, SCA12 and SCA17 (detetion of expansion on ATXN8OS/ATXN8, ATXN10, PPP2R2B and TBP genes) CGC Genetics Unilabs Portugal	1	4	T Targeted variant analysis
Spinocerebellar ataxia panel: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and Dentatorubral-pallidoluysian atrophy (DRPLA) CGC Genetics Unilabs Portugal	1	10	T Targeted variant analysis
PARKINSON'S DISEASE AND PARKINSONISM EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	96	E Sequence analysis of select exons
PANEL-3 SCA: SCA10, SCA12, SCA17 & SCA36 Laboratorio de Genetica Clinica SL Spain	1	4	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.