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Results: 1 to 20 of 32

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

NBIA Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
99
  • C Sequence analysis of the entire coding region

NBIA Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
99
  • D Deletion/duplication analysis

Leukodystrophy with dysmyelination and spastic paraparesis with or without dystonia (SPG35)

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

SPG35

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

Hereditary Spastic Paraplegia Comprehensive NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
4861
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Complex Hereditary Spastic Paraplegia NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
4353
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

FA2H. Complete sequencing

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

FA2H Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • C Sequence analysis of the entire coding region

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel

CeGaT GmbH
Germany
1244
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation Disorders

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
129
  • C Sequence analysis of the entire coding region

Leukodistrophy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
4658
  • C Sequence analysis of the entire coding region

SPASTIC PARAPLEGIA A.R

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1021
  • C Sequence analysis of the entire coding region

NGS panel - Neurodegeneration with brain iron accumulation

Genome Diagnostics VU University Medical Center
Netherlands
1110
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Hereditary Spastic Paraplegia

Asper Biotech Asper Biotech Ltd.
Estonia
3434
  • C Sequence analysis of the entire coding region

FA2H - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
31
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Neurodegeneration with Brain Iron Accumulation NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
179
  • C Sequence analysis of the entire coding region

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel

Invitae
United States
4145
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spastic paraplegia 35, autosomal recessive

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.