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Results: 1 to 20 of 73

Tests names and labsConditionsGenes and analytesMethods

KIF1A-Related Disorders via KIF1A Gene Sequencing with CNV Detection

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KIF1A

MGZ Medical Genetics Center
Germany
31
  • C Sequence analysis of the entire coding region

KIF1A

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KIF1A. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Familial Spastic Paraplegia Type 30 , Sequencing KIF1A Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Single gene testing KIF1A

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Spastic Paraplegia 30 (sequence analysis of KIF1A gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
114
  • D Deletion/duplication analysis

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication

NBIA Testing Center Oregon Health & Science University
United States
316
  • -- Deletion/duplication analysis

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication

NBIA Testing Center Oregon Health & Science University
United States
519
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing

NBIA Testing Center Oregon Health & Science University
United States
519
  • -- Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
114
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal dominant type 9

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

HSN2C

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

SPG30

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

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia Exome Panel

Genetic Services Laboratory University of Chicago
United States
1956
  • C Sequence analysis of the entire coding region

Comprehensive Neuropathy Sequencing Panel with CNV Detection

PreventionGenetics
United States
8069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 73

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.

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