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Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

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

MARS2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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 Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • 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

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spastic ataxia 3, autosomal recessive, 611390, Autosomal recessive; SPAX3 (Autosomal recessive spastic ataxia with leukoencephalopathy) (MARS2 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

MARS2 - autosomal recessive spastic ataxia type 3

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
21
  • C Sequence analysis of the entire coding region

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

MARS2

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • 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

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • 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

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

MARS2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Mitochondrial Panel, Nuclear genes

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
145134
  • C Sequence analysis of the entire coding region

Spastic ataxia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
88
  • C Sequence analysis of the entire coding region

Oxidative Phosphorylation Disorders NGS Panel

Fulgent Genetics
United States
416235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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