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Results: 21 to 40 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Fatty Acid Oxidation Defects Panel

Invitae
United States
2825
  • D Deletion/duplication analysis

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel

Invitae
United States
79
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy with or without Sensorineural Deafness) via the SLC52A2 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

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

Amyotrophic lateral sclerosis panel. 32-gene NGS panel.

Genologica Medica
Spain
6632
  • 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

Fatty Acid Oxidation Disorders Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2325
  • C Sequence analysis of the entire coding region

SLC52A2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Riboflavin Disorders Gene Sequencing Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
35
  • C Sequence analysis of the entire coding region

Brown-Vialetto-Van Laere syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

BROWN-VIALETTO-VAN LAERE SYNDROME

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

Hearing Loss NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
198157
  • C Sequence analysis of the entire coding region

Hereditary Ataxia

Asper Biogene Asper Biogene LLC
Estonia
180139
  • C Sequence analysis of the entire coding region

SLC52A2

MGZ Medical Genetics Center
Germany
11
  • C Sequence analysis of the entire coding region

Metaboseq Gene Sequencing Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
5755
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 40

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.