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Results: 1 to 20 of 72

Tests names and labsConditionsGenes, analytes, and microbesMethods

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
768514
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7841205
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy and Seizure Panel

PreventionGenetics
United States
485374
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy and Seizure Plus Panel

PreventionGenetics
United States
285198
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy, progressive myoclonic 2A (Lafora), 254780, Autosomal recessive (Lafora disease) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Epilepsy, progressive myoclonic 2A (Lafora), 254780, Autosomal recessive (Lafora disease) (EPM2A gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Epilepsy, progressive myoclonic 2B (Lafora), 254780, Autosomal recessive (Lafora disease) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Epilepsy, progressive myoclonic 2B (Lafora), 254780, Autosomal recessive (Lafora disease) (NHLRC1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Epilepsy, progressive myoclonic 2A (Lafora), 254780, Autosomal recessive (Lafora disease) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Epilepsy, progressive myoclonic 2B (Lafora), 254780, Autosomal recessive (Lafora disease) (NHLRC1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Epilepsy, progressive myoclonic 2A (Lafora), 254780, Autosomal recessive (Lafora disease) (EPM2A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Epilepsy, progressive myoclonic 2B (Lafora), 254780, Autosomal recessive (Lafora disease) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

CHOP Epilepsy Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
9184
  • C Sequence analysis of the entire coding region

EPM2A

Amplexa Genetics Amplexa Genetics A/S
Denmark
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

EPM2A. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Lafora Disease via the EPM2A Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lafora Disease via the NHLRC1 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myoclonic Epilepsy (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
14125
  • C Sequence analysis of the entire coding region

Glycogenosis (WES based NGS panel of 28 genes, including CNV analysis)

CGC Genetics
Portugal
3228
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 72

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.

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