U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

Trichorhinophalangeal syndrome type I (sequence analysis of TRPS1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Spastic paraplegia, optic atrophy, and neuropathy, 609541, Autosomal recessive; SPOAN (Spastic paraplegia-optic atrophy-neuropathy syndrome) (KLC2 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

Optic Atrophy and Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
9870
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Spastic Paraplegia Panel 

CGC Genetics Unilabs
Portugal
197
  • C Sequence analysis of the entire coding region

Neuropathy Panel

Mendelics
Brazil
1104
  • C Sequence analysis of the entire coding region

CoGenesis@Neuro

Codex Genetics Limited
Hong Kong
1490
  • T Targeted variant analysis

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Xpanded Adult Movement Disorders Panel

GeneDx
United States
5473
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Xpanded Panel

GeneDx
United States
1999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8179
  • C Sequence analysis of the entire coding region

KLC2 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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.