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Results: 21 to 40 of 79

Tests names and labsConditionsGenes, analytes, and microbesMethods

Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel

PreventionGenetics, part of Exact Sciences
United States
3013
  • 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
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene

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

Optic Atrophy and Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
9668
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Panel

PreventionGenetics, part of Exact Sciences
United States
2722
  • 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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

SPG7

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Mitochondrial DNA depletion syndrome panel. 25-gene NGS panel.

Genologica Medica
Spain
5025
  • 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

Optic atrophy. NGS panel of 13 genes.

Genologica Medica
Spain
2913
  • C Sequence analysis of the entire coding region

Optic atrophy panel. NGS panel of 19 genes.

Genologica Medica
Spain
3819
  • C Sequence analysis of the entire coding region

Spastic paraplegia panel

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

Neuro-ophthalmology panel. NGS panel of 38 genes.

Genologica Medica
Spain
7538
  • 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

SPG7 Sequence Analysis

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

SPG7 Sequence Analysis (Familial Mutation/Variant Analysis)

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

SPG7 Sequence Analysis (Prenatal Diagnosis)

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

Results: 21 to 40 of 79

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.