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Results: 1 to 20 of 59

Tests names and labsConditionsGenes and analytesMethods

Cerebral Cortical Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
2326
  • D Deletion/duplication analysis

Cerebral Cortical Malformations Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
5354
  • D Deletion/duplication analysis

Partington syndrome

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

Cerebral Cortical Malformation Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
5354
  • C Sequence analysis of the entire coding region

ARX. Complete sequencing

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

ARX. Detection of the c.428_451dup duplication by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

ARX Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
51
  • T Targeted variant analysis

ARX Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
51
  • T Targeted variant analysis

ARX Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • C Sequence analysis of the entire coding region

ARX Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis

ARX Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis

ARX Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Neurodevelopment-Expanded

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

IDNext

Ambry Genetics
United States
221140
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiRapid reflex EpilepsyNext

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpilepsyNext

Ambry Genetics
United States
168100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiFirst-Infantile Spasms

Ambry Genetics
United States
3017
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext: Neuro

Ambry Genetics
United States
308196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ARX Sequencing and CNV Evaluation (Intellectual Disability)

Athena Diagnostics Inc
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 59

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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