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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

USP8 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • 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
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Complex Hereditary Spastic Paraplegia Panel

PreventionGenetics, part of Exact Sciences
United States
7287
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Spastic Paraplegia Comprehensive Panel

PreventionGenetics, part of Exact Sciences
United States
87106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis)

Variantyx, Inc.
United States
14118
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Hereditary Cancer Panel (Complete)

Mendelics
Brazil
1264
  • C Sequence analysis of the entire coding region

SPASTIC PARAPARESIS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1160
  • E Sequence analysis of select exons

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

CoGenesis@Neuro

Codex Genetics Limited
Hong Kong
1490
  • T Targeted variant analysis

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Dementia (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
10145
  • C Sequence analysis of the entire coding region

Ataxia Xpanded Panel

GeneDx
United States
1999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular disorders - different panels

Institute of Human Genetics Cologne University
Germany
16474
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pituitary adenoma: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
65
  • C Sequence analysis of the entire coding region

USP8 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurogenetic Disorders - panels

MGZ Medical Genetics Center
Germany
14597
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.