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Results: 1 to 20 of 80

Tests names and labsConditionsGenes and analytesMethods

NBIA Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
910
  • C Sequence analysis of the entire coding region

NBIA Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
1010
  • D Deletion/duplication analysis

CP sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

CP deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

Neurodegeneration with brain iron accumulation, GTPBP2 related

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

PANK2 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis

PANK2 sequencing

Genetic Services Laboratory University of Chicago
United States
21
  • 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

Dystonia Exome Panel

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

EpiRapid

Ambry Genetics
United States
3916
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing REPS1

CeGaT GmbH
Germany
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

Pantothenate Kinase-Associated Neurodegeneration

Human Genetics Research Group Shri Mata Vaishno Devi University
India
11
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurodegeneration with Brain Iron Accumulation Panel

Invitae
United States
1611
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Copper Metabolism Disorders Panel

Invitae
United States
105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitreoretinopathy with phalangeal epiphyseal dysplasia

Genera
Brazil
41
  • C Sequence analysis of the entire coding region

Stickler syndrome, type I, nonsyndromic ocular

Genera
Brazil
41
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 80

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