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Results: 1 to 20 of 129

Tests names and labsConditionsGenes, analytes, and microbesMethods

Epileptic encephalopathy, early infantile, 3 (sequence analysis of SLC25A22 gene)

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

Tempus xT

Tempus AI - RTP
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

PLA2G6 Gene PARK14 Parkinson NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

SYNE1 Gene Spinocerebellar ataxia type 8, autosomal recessive NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Neuromuscular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muscular Dystrophy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
175
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Emery-Dreifuss Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
17
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus AI - CHI
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SYNE1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 129

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.