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Results: 1 to 20 of 195

Tests names and labsConditionsGenes, analytes, and microbesMethods

Chromosome analysis of stimulated cultures (blood)

CGC Genetics Unilabs
Portugal
11
  • K Karyotyping

Neuronal Ceroid-Lipofuscinoses Panel

Genetic Services Laboratory University of Chicago
United States
1113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SNCA Gene PARK1 Parkinson NGS Genetic DNA Test

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

AP4M1 Gene SPG50 NGS Genetic DNA Test

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

TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive NGS Genetic DNA Test

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

TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

Comprehensive Epilepsy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1318
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7750
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal ceroid lipofuscinosis type 2 (LINCL)

Laboratory of Human Genetics GENOMED Health Care Center
Poland
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195205
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoLSD MOx

Centogene AG - the Rare Disease Company
Germany
1224
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNCL MOx

Centogene AG - the Rare Disease Company
Germany
14
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TPP1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • 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

CentoIEM Panel

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

CentoVision Panel

Centogene AG - the Rare Disease Company
Germany
417413
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 195

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.