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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

ASXL1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Bohring-Opitz syndrome, 605039, Autosomal dominant; BOPS (Bohring-Opitz syndrome) (ASXL1 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

Bohring-Opitz syndrome, 605039, Autosomal dominant; BOPS (Bohring-Opitz syndrome) (ASXL1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Wilms Tumor Panel

PreventionGenetics, part of Exact Sciences
United States
4828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bohring-Opitz Syndrome via the ASXL1 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

Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
4342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Epilepsy

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

Periventricular heterotopia panel

Genologica Medica
Spain
5220
  • C Sequence analysis of the entire coding region

ASXL1 exon 12 analysis

Duzen Laboratories Duzen BBAGUAS
Turkey
21
  • C Sequence analysis of the entire coding region

Cornelia de Lange syndrome

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
1010
  • C Sequence analysis of the entire coding region

Bohring-Opitz Syndrome (ASXL1 Single Gene Test)

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

Bohring-Opitz Syndrome: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Bohring-Opitz Syndrome , Sequencing ASXL1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Craniosynostosis Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2622
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cornelia de Lange Syndrome Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing ASXL1

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

Results: 1 to 20 of 23

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.