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Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Leukodystrophy, hypomyelinating, 2, 608804, Autosomal recessive; HLD2 (Pelizaeus-Merzbacher-like disease due to GJC2 mutation) (GJC2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Leukodystrophy, hypomyelinating, 2, 608804, Autosomal recessive; HLD2 (Pelizaeus-Merzbacher-like disease due to GJC2 mutation) (GJC2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Leukodystrophy and Leukoencephalopathy, Adult Onset Panel

PreventionGenetics, Part of Exact Sciences
United States
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, Part of Exact Sciences
United States
201211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

Invitae
United States
9862
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GJC2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

GJC2 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
31
  • T Targeted variant analysis

GJC2 Sequence Analysis

Baylor Genetics
United States
31
  • C Sequence analysis of the entire coding region

Hereditary Lymphedema via the GJC2 Gene

PreventionGenetics, Part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GJC2

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Leukodystrophy and leukoencephalopathy panel. NGS panel of 74 genes.

Genologica Medica
Spain
9674
  • C Sequence analysis of the entire coding region

Lymphatic malformations and related disorders panel. NGS panel of 11 genes.

Genologica Medica
Spain
3111
  • C Sequence analysis of the entire coding region

Complete epilepsy panel. NGS panel of 283 genes.

Genologica Medica
Spain
409283
  • C Sequence analysis of the entire coding region

Spastic paraplegia panel

Genologica Medica
Spain
10060
  • C Sequence analysis of the entire coding region

Leukodystrophy, hypomyelinating: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1818
  • C Sequence analysis of the entire coding region

Early-Onset Ataxia NGS Panel

Fulgent Genetics
United States
505132
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypomyelinating Leukodystrophy NGS Panel

Fulgent Genetics
United States
22562
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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.