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Results: 1 to 15 of 15

Tests names and labsConditionsGenes and analytesMethods

KAT6B-Related Disorders via the KAT6B Gene

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

KAT6B. Sequencing of the exon 18

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

KAT6B. Complete sequencing

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

Noonan Spectrum Disorders/Rasopathies Sequencing Panel with CNV Detection

PreventionGenetics
United States
2115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KAT6B-Related Disorders: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
21
  • C Sequence analysis of the entire coding region

OHDO BLEFAROFIMOSIS SYNDROME, VARIANT SBBYS

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Invitae KAT6B-Related Disorders Test

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

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3032447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KAT6B sequencing

Laboratory of Dr. Philippe Campeau Sainte-Justine Hospital
Canada
21
  • C Sequence analysis of the entire coding region

KAT6B Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

Noonan Spectrum Disorders Panel, Sequencing, 15 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
1015
  • C Sequence analysis of the entire coding region

KAT6B

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

KAT6B Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy NGS Panel

Fulgent Genetics
United States
597343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan Syndrome

Asper Biogene Asper Biogene LLC
Estonia
1413
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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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