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Results: 1 to 20 of 31 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

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

Megalencephalic leukoencephalopathy with subcortical cysts

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

Megalencephalic Leukoencephalopathy with Subcortical Cysts Sequencing Panel

PreventionGenetics
United States
32
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MLC1. MLPA testing

Instituto de Medicina Genomica
Spain
11
  • D Deletion/duplication analysis

MLC1. Complete sequencing

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

Megalencephalic Leukoencephalopathy with Subcortical Cysts via the MLC1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LEUKOENCEPHALOPATHY MEGALENCEPHALIC (VAN DER KNAAP SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

Megalencephalic leukoencephalopathy gene sequencing

Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
India
11
  • S Mutation scanning of the entire coding region

Megalencephalic Leukoencephalopathy with Subcortical Cysts , Deletions-Duplications (MLPA) MLC1 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

Megalencephalic Leukoencephalopathy with Subcortical Cysts, Sequencing MLC1 Gene

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

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leukodistrophy

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

Megalencephalic leukoencephalopathy with subcortical cysts (deletion/duplication analysis of MLC1 gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Megalencephalic leukoencephalopathy with subcortical cysts (sequence analysis of MLC1 gene)

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

Pan-Ethnic Carrier Screen: Gene Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
136147
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Dystonia All Panel

CeGaT GmbH
Germany
4954
  • -- Sequence analysis of the entire coding region

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

CeGaT GmbH
Germany
69175
  • C Sequence analysis of the entire coding region

Hereditary Degenerative Syndromes Panel

CeGaT GmbH
Germany
2849
  • -- Sequence analysis of the entire coding region

HEPACAM

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

Results: 1 to 20 of 31

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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