U.S. flag

An official website of the United States government

Filters

reset all
See more specimen types...

Other countries

See more countries

Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

NBIA Panel

Genetic Services Laboratory University of Chicago
United States
913
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FTL IRE mutation analysis

Genetics and Molecular Pathology SA Pathology
Australia
31
  • E Sequence analysis of select exons

MVL Vision Panel

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

FTL - 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 Neurodegeneration with Brain Iron Accumulation Panel

Invitae
United States
4120
  • 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 Iron Related Disorders Panel

Invitae
United States
3927
  • 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 3, 606159, Autosomal dominant; NBIA3 (Neuroferritinopathy) (FTL 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

Neurodegeneration with brain iron accumulation 3, 606159, Autosomal dominant; NBIA3 (Neuroferritinopathy) (FTL 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

Parkinson Disease and Parkinsonism Panel

PreventionGenetics, part of Exact Sciences
United States
6870
  • 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

Cataract panel. NGS panel of 69 genes.

Genologica Medica
Spain
14669
  • C Sequence analysis of the entire coding region

Congenital Cataracts NGS Panel

Fulgent Genetics
United States
10656
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperferritinemia-Cataract Syndrome (FTL Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuroferritinopathy (FTL Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain-Iron Accumulation NGS Panel

Fulgent Genetics
United States
3613
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation Disorders: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
98
  • C Sequence analysis of the entire coding region

Neuroferritinopathy: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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.