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Results: 1 to 20 of 37 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CASK sequencing

Genetic Services Laboratory University of Chicago
United States
21
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

FG syndrome type 4

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CASK Related Disorders, Microcephaly with Pontine and Cerebellar Hypoplasia, X-linked intellectual disability with or without Nystagmus and FG Syndrome Type 4 via the CASK Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-Linked Intellectual Disability Sequencing Panel

PreventionGenetics
United States
8081
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Brain malformations

Asper Biotech Asper Biotech Ltd.
Estonia
185145
  • C Sequence analysis of the entire coding region

Microcephaly Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
2919
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Epilepsy

Ambry Genetics
United States
10572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation, X-linked, non-syndromic

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
3531
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
16085
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodevelopment-Expanded

Ambry Genetics
United States
105196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing CASK

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

FG syndrome type 4 (sequence analysis of CASK gene)

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

CASK - Gene sequencing

Clinical Genetics Academic Medical Center
Netherlands
21
  • C Sequence analysis of the entire coding region

Developmental Eye Disease panel

Molecular Vision Laboratory
United States
10959
  • C Sequence analysis of the entire coding region

CASK

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devSEEKĀ® Sequence Analysis for Neurodevelopmental Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
261201
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
143141
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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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