Clinical and research tests for NOP56 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MID1 Gene Opitz G syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NOP56 Gene Spinocerebellar ataxia type 36, autosomal dominant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
NOP56 - Repeat expansion analysis Centogene AG - the Rare Disease Company Germany	1	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 Repeat Expansion Panel Centogene AG - the Rare Disease Company Germany	13	13	T Targeted variant analysis
Spinocerebellar ataxia 36, 614153, Autosomal dominant (Spinocerebellar ataxia type 36) (NOP56 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
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
PANEL-3 SCA: SCA10, SCA12, SCA17 & SCA36 Laboratorio de Genetica Clinica SL Spain	1	4	T Targeted variant analysis
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
CoGenesis@Neuro Codex Genetics Limited Hong Kong	1	490	T Targeted variant analysis
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
SCA36 (NOP56) Genetic Testing (Repeat expansion) MNG Laboratories (Medical Neurogenetics, LLC.) United States	1	1	E Sequence analysis of select exons
Spinocerebellar ataxia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	37	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Spinocerebellar Ataxia Repeat Panel (SCA 8, 10, 12, 17, 36, & DRPLA) MNG Laboratories (Medical Neurogenetics, LLC.) United States	6	6	T Targeted variant analysis
Comprehensive Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36, DRPLA & FRDA) MNG Laboratories (Medical Neurogenetics, LLC.) United States	12	12	T Targeted variant analysis
NOP56 (SCA36) Repeat Expansion Fulgent Genetics United States	1	1	T Targeted variant analysis
Ataxia Repeat Expansion Analysis Fulgent Genetics United States	19	15	T Targeted variant analysis
Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) MNG Laboratories (Medical Neurogenetics, LLC.) United States	11	11	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.