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Results: 1 to 20 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

PLA2G6 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Neurodegeneration with Brain Iron Accumulation Panel

Invitae
United States
4120
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Parkinson Disease and Parkinsonism Panel

Invitae
United States
4426
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Neurodegeneration with brain iron accumulation 2B, 610217, Autosomal recessive; NBIA2B (Infantile neuroaxonal dystrophy) (PLA2G6 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

Neurodegeneration with brain iron accumulation 2B, 610217, Autosomal recessive; NBIA2B (Infantile neuroaxonal dystrophy) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Neurodegeneration with brain iron accumulation 2B, 610217, Autosomal recessive; NBIA2B (Infantile neuroaxonal dystrophy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Neurodegeneration with brain iron accumulation 2B, 610217, Autosomal recessive; NBIA2B (Infantile neuroaxonal dystrophy) (PLA2G6 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

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Invitae
United States
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PLA2G6 - Infantile Neuroaxonal Dystrophy 1

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
31
  • C Sequence analysis of the entire coding region

PLA2G6-Associated Neuroderation, Infantile Neuroaxonal Dystrophy and Parkinson Disease via the PLA2G6 Gene

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

Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
1816
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Dystonia Comprehensive Panel

Invitae
United States
6138
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PLA2G6

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

Results: 1 to 20 of 56

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