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Results: 1 to 20 of 72

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

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

L1CAM sequencing

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

L1CAM deletion/duplication analysis

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

MASA syndrome

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

Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction

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

SPG1

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

X-Linked Intellectual Disability NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

L1CAM. Complete sequencing

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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

L1 Syndrome via the L1CAM Gene

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

L1CAM Related Disorders - L1CAM Sequencing

Molecular Genetics Laboratory Children's Hospital Colorado
United States
31
  • C Sequence analysis of the entire coding region

Non-Specific Intellectual Disability Panel

Genetic Services Laboratory University of Chicago
United States
1173
  • 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

Hydrocephalus

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
33
  • 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

MASA syndrome: L1CAM gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia

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

IDNext

Ambry Genetics
United States
12140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 72

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.