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Results: 1 to 20 of 66

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KCNA1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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

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

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Episodic Ataxia Panel

PreventionGenetics, part of Exact Sciences
United States
6136
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Episodic ataxia/myokymia syndrome, 160120, Autosomal dominant; EA1 (Hereditary continuous muscle fiber activity) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Episodic ataxia/myokymia syndrome, 160120, Autosomal dominant; EA1 (Hereditary continuous muscle fiber activity) (KCNA1 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

Genomic UnityⓇ Comprehensive Ataxia Analysis (includes STR analysis of 16 loci)

Variantyx, Inc.
United States
5253
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Episodic Ataxia Type 1 or Hypomagnesemia via the KCNA1 Gene

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

Hypomagnesemia Panel

PreventionGenetics, part of Exact Sciences
United States
1616
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Next Generation Sequencing for FHM, EA1, EA2, SCA6, CADASIL, CARASIL, COL4A1/2, Fabry Disease, Small Vessel Disease, Epilepsy

Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology
Australia
1812
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

KCNA1

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 66

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.